Canonical Allele Identifier: CA2620507723
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102877576-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102877576T>C , CM000674.2:g.102877576T>C GRCh38
NC_000012.11:g.103271354T>C , CM000674.1:g.103271354T>C GRCh37
NC_000012.10:g.101795484T>C NCBI36
NG_008690.1:g.45027A>G
NG_008690.2:g.85835A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.353-26A>G MANE Select ENSP00000448059.1:n.353-26A>G
ENST00000307000.7:c.338-26A>G ENSP00000303500.2:n.338-26A>G
ENST00000549111.5:n.449-26A>G
ENST00000550978.6:c.337-26A>G
ENST00000551337.5:c.353-26A>G ENSP00000447620.1:n.353-26A>G
ENST00000551988.5:n.442-26A>G
ENST00000553106.5:c.353-26A>G ENSP00000448059.1:n.353-26A>G
NM_000277.1:c.353-26A>G NP_000268.1:n.353-26A>G
XM_011538422.1:c.353-26A>G XP_011536724.1:n.353-26A>G
NM_000277.2:c.353-26A>G NP_000268.1:n.353-26A>G
NM_001354304.1:c.353-26A>G NP_001341233.1:n.353-26A>G
XM_017019370.2:c.353-26A>G XP_016874859.1:n.353-26A>G
NM_000277.3:c.353-26A>G MANE Select NP_000268.1:n.353-26A>G
NM_001354304.2:c.353-26A>G NP_001341233.1:n.353-26A>G
Search 100 bp 5'
Search 100 bp 3'