Canonical Allele Identifier: CA251539

Gene: PAH

Linked Data

• ClinVar Variation Id: 608
• ClinVar RCV Id: RCV000000639 ; RCV000078511 ; RCV002512612 ; RCV003421890
• dbSNP Id: rs5030841
• ExAC: 12:103306594 A / G
• gnomAD v2: 12-103306594-A-G
• gnomAD v3: 12-102912816-A-G
• gnomAD v4: 12-102912816-A-G
• MyVariant Identifiers: chr12:g.103306594A>G (hg19) ; chr12:g.102912816A>G (hg38)
• PubMed: PMID:1679030 ; PMID:8889590 ; PMID:9521426 ; PMID:12501224 ; PMID:16879198 ; PMID:17935162 ; PMID:21147011 ; PMID:21953985 ; PMID:22513348 ; PMID:23430547 ; PMID:23500595
• ERepo: CA251539/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102912816A>G , CM000674.2:g.102912816A>G	GRCh38
NC_000012.11:g.103306594A>G , CM000674.1:g.103306594A>G	GRCh37
NC_000012.10:g.101830724A>G	NCBI36
NG_008690.1:g.9787T>C
NG_008690.2:g.50595T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.143T>C MANE Select	ENSP00000448059.1:p.Leu48Ser
ENST00000307000.7:c.128T>C	ENSP00000303500.2:p.Leu43Ser
ENST00000546844.1:c.143T>C	ENSP00000446658.1:p.Leu48Ser
ENST00000548677.2:n.230T>C
ENST00000548928.1:n.65T>C
ENST00000549111.5:n.239T>C
ENST00000550978.6:c.127T>C
ENST00000551337.5:c.143T>C	ENSP00000447620.1:p.Leu48Ser
ENST00000551988.5:n.232T>C
ENST00000553106.5:c.143T>C	ENSP00000448059.1:p.Leu48Ser
ENST00000635500.1:n.111T>C
NM_000277.1:c.143T>C	NP_000268.1:p.Leu48Ser
XM_011538422.1:c.143T>C	XP_011536724.1:p.Leu48Ser
NM_000277.2:c.143T>C	NP_000268.1:p.Leu48Ser
NM_001354304.1:c.143T>C	NP_001341233.1:p.Leu48Ser
XM_017019370.2:c.143T>C	XP_016874859.1:p.Leu48Ser
NM_000277.3:c.143T>C MANE Select	NP_000268.1:p.Leu48Ser
NM_001354304.2:c.143T>C	NP_001341233.1:p.Leu48Ser