Canonical Allele Identifier: CA386304008
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs2136701564
MyVariant Identifiers: chr12:g.103288555C>A (hg19) chr12:g.102894777C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894777C>A , CM000674.2:g.102894777C>A GRCh38
NC_000012.11:g.103288555C>A , CM000674.1:g.103288555C>A GRCh37
NC_000012.10:g.101812685C>A NCBI36
NG_008690.1:g.27826G>T
NG_008690.2:g.68634G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.310G>T MANE Select ENSP00000448059.1:p.Ala104Ser
ENST00000307000.7:c.295G>T ENSP00000303500.2:p.Ala99Ser
ENST00000546844.1:c.310G>T ENSP00000446658.1:p.Ala104Ser
ENST00000548928.1:n.232G>T
ENST00000549111.5:n.406G>T
ENST00000550978.6:c.294G>T
ENST00000551337.5:c.310G>T ENSP00000447620.1:p.Ala104Ser
ENST00000551988.5:n.399G>T
ENST00000553106.5:c.310G>T ENSP00000448059.1:p.Ala104Ser
NM_000277.1:c.310G>T NP_000268.1:p.Ala104Ser
XM_011538422.1:c.310G>T XP_011536724.1:p.Ala104Ser
NM_000277.2:c.310G>T NP_000268.1:p.Ala104Ser
NM_001354304.1:c.310G>T NP_001341233.1:p.Ala104Ser
XM_017019370.2:c.310G>T XP_016874859.1:p.Ala104Ser
NM_000277.3:c.310G>T MANE Select NP_000268.1:p.Ala104Ser
NM_001354304.2:c.310G>T NP_001341233.1:p.Ala104Ser
Search 100 bp 5'
Search 100 bp 3'