Canonical Allele Identifier: CA242744291

Gene: PAH

Linked Data

• ClinVar Variation Id: 2721843
• ClinVar RCV Id: RCV003496970
• dbSNP Id: rs1054762308
• gnomAD v3: 12-102843795-G-A
• gnomAD v4: 12-102843795-G-A
• MyVariant Identifiers: chr12:g.103237573G>A (hg19) ; chr12:g.102843795G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102843795G>A , CM000674.2:g.102843795G>A	GRCh38
NC_000012.11:g.103237573G>A , CM000674.1:g.103237573G>A	GRCh37
NC_000012.10:g.101761703G>A	NCBI36
NG_008690.1:g.78808C>T
NG_008690.2:g.119616C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.1066-16C>T MANE Select	ENSP00000448059.1:n.1066-16C>T
ENST00000307000.7:c.1051-16C>T	ENSP00000303500.2:n.1051-16C>T
ENST00000549247.6:n.825-16C>T
ENST00000551114.2:n.728-16C>T
ENST00000553106.5:c.1066-16C>T	ENSP00000448059.1:n.1066-16C>T
ENST00000635477.1:c.170-16C>T
ENST00000635528.1:n.581-16C>T
NM_000277.1:c.1066-16C>T	NP_000268.1:n.1066-16C>T
XM_011538422.1:c.1009-16C>T	XP_011536724.1:n.1009-16C>T
NM_000277.2:c.1066-16C>T	NP_000268.1:n.1066-16C>T
NM_001354304.1:c.1066-16C>T	NP_001341233.1:n.1066-16C>T
NM_000277.3:c.1066-16C>T MANE Select	NP_000268.1:n.1066-16C>T
NM_001354304.2:c.1066-16C>T	NP_001341233.1:n.1066-16C>T