Canonical Allele Identifier: CA919161364
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1592952107
gnomAD v4: 12-102851611-C-CCT
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102851613_102851614dup , CM000674.2:g.102851613_102851614dup GRCh38
NC_000012.11:g.103245391_103245392dup , CM000674.1:g.103245391_103245392dup GRCh37
NC_000012.10:g.101769521_101769522dup NCBI36
NG_008690.1:g.70990_70991dup
NG_008690.2:g.111798_111799dup

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.912+74_912+75dup MANE Select ENSP00000448059.1:n.912+74_912+75dup
ENST00000307000.7:c.897+74_897+75dup ENSP00000303500.2:n.897+74_897+75dup
ENST00000549247.6:n.671+74_671+75dup
ENST00000551114.2:n.574+74_574+75dup
ENST00000553106.5:c.912+74_912+75dup ENSP00000448059.1:n.912+74_912+75dup
ENST00000635477.1:c.73+74_73+75dup
NM_000277.1:c.912+74_912+75dup NP_000268.1:n.912+74_912+75dup
XM_011538422.1:c.912+74_912+75dup XP_011536724.1:n.912+74_912+75dup
NM_000277.2:c.912+74_912+75dup NP_000268.1:n.912+74_912+75dup
NM_001354304.1:c.912+74_912+75dup NP_001341233.1:n.912+74_912+75dup
NM_000277.3:c.912+74_912+75dup MANE Select NP_000268.1:n.912+74_912+75dup
NM_001354304.2:c.912+74_912+75dup NP_001341233.1:n.912+74_912+75dup
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