Canonical Allele Identifier: CA114368

Gene: PAH

Linked Data

• ClinVar Variation Id: 627
• ClinVar RCV Id: RCV000000659 ; RCV000088892 ; RCV000675074 ; RCV003323344 ; RCV003914793
• dbSNP Id: rs62517167
• ExAC: 12:103288572 A / G
• gnomAD v2: 12-103288572-A-G
• gnomAD v3: 12-102894794-A-G
• gnomAD v4: 12-102894794-A-G
• MyVariant Identifiers: chr12:g.103288572A>G (hg19) ; chr12:g.102894794A>G (hg38)
• ERepo: CA114368/MONDO:0009861/006
• PubMed: PMID:8364546

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102894794A>G , CM000674.2:g.102894794A>G	GRCh38
NC_000012.11:g.103288572A>G , CM000674.1:g.103288572A>G	GRCh37
NC_000012.10:g.101812702A>G	NCBI36
NG_008690.1:g.27809T>C
NG_008690.2:g.68617T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.293T>C MANE Select	ENSP00000448059.1:p.Leu98Ser
ENST00000307000.7:c.278T>C	ENSP00000303500.2:p.Leu93Ser
ENST00000546844.1:c.293T>C	ENSP00000446658.1:p.Leu98Ser
ENST00000548928.1:n.215T>C
ENST00000549111.5:n.389T>C
ENST00000550978.6:c.277T>C
ENST00000551337.5:c.293T>C	ENSP00000447620.1:p.Leu98Ser
ENST00000551988.5:n.382T>C
ENST00000553106.5:c.293T>C	ENSP00000448059.1:p.Leu98Ser
NM_000277.1:c.293T>C	NP_000268.1:p.Leu98Ser
XM_011538422.1:c.293T>C	XP_011536724.1:p.Leu98Ser
NM_000277.2:c.293T>C	NP_000268.1:p.Leu98Ser
NM_001354304.1:c.293T>C	NP_001341233.1:p.Leu98Ser
XM_017019370.2:c.293T>C	XP_016874859.1:p.Leu98Ser
NM_000277.3:c.293T>C MANE Select	NP_000268.1:p.Leu98Ser
NM_001354304.2:c.293T>C	NP_001341233.1:p.Leu98Ser