Canonical Allele Identifier: CA16041558

Gene: PAH

Linked Data

• ClinVar Variation Id: 371497
• ClinVar RCV Id: RCV000410471 ; RCV000759177
• dbSNP Id: rs567261857
• gnomAD v4: 12-102840433-G-A
• MyVariant Identifiers: chr12:g.103234211G>A (hg19) ; chr12:g.102840433G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102840433G>A , CM000674.2:g.102840433G>A	GRCh38
NC_000012.11:g.103234211G>A , CM000674.1:g.103234211G>A	GRCh37
NC_000012.10:g.101758341G>A	NCBI36
NG_008690.1:g.82170C>T
NG_008690.2:g.122978C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1282C>T MANE Select	ENSP00000448059.1:p.Gln428Ter
ENST00000307000.7:c.1267C>T	ENSP00000303500.2:p.Gln423Ter
ENST00000551114.2:n.944C>T
ENST00000553106.5:c.1282C>T	ENSP00000448059.1:p.Gln428Ter
ENST00000635477.1:c.386C>T
ENST00000635528.1:n.797C>T
NM_000277.1:c.1282C>T	NP_000268.1:p.Gln428Ter
XM_011538422.1:c.1225C>T	XP_011536724.1:p.Gln409Ter
NM_000277.2:c.1282C>T	NP_000268.1:p.Gln428Ter
NM_001354304.1:c.1282C>T	NP_001341233.1:p.Gln428Ter
NM_000277.3:c.1282C>T MANE Select	NP_000268.1:p.Gln428Ter
NM_001354304.2:c.1282C>T	NP_001341233.1:p.Gln428Ter