Canonical Allele Identifier: CA229610

Gene: PAH

Linked Data

• ClinVar Variation Id: 102727
• ClinVar RCV Id: RCV000088976 ; RCV000669836 ; RCV003390790
• dbSNP Id: rs199475602
• ExAC: 12:103249091 C / G
• gnomAD v2: 12-103249091-C-G
• gnomAD v3: 12-102855313-C-G
• gnomAD v4: 12-102855313-C-G
• MyVariant Identifiers: chr12:g.103249091C>G (hg19) ; chr12:g.102855313C>G (hg38)
• ERepo: CA229610/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102855313C>G , CM000674.2:g.102855313C>G	GRCh38
NC_000012.11:g.103249091C>G , CM000674.1:g.103249091C>G	GRCh37
NC_000012.10:g.101773221C>G	NCBI36
NG_008690.1:g.67290G>C
NG_008690.2:g.108098G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.529G>C MANE Select	ENSP00000448059.1:p.Val177Leu
ENST00000307000.7:c.514G>C	ENSP00000303500.2:p.Val172Leu
ENST00000549111.5:n.625G>C
ENST00000551988.5:n.550G>C
ENST00000553106.5:c.529G>C	ENSP00000448059.1:p.Val177Leu
NM_000277.1:c.529G>C	NP_000268.1:p.Val177Leu
XM_011538422.1:c.529G>C	XP_011536724.1:p.Val177Leu
NM_000277.2:c.529G>C	NP_000268.1:p.Val177Leu
NM_001354304.1:c.529G>C	NP_001341233.1:p.Val177Leu
XM_017019370.2:c.529G>C	XP_016874859.1:p.Val177Leu
NM_000277.3:c.529G>C MANE Select	NP_000268.1:p.Val177Leu
NM_001354304.2:c.529G>C	NP_001341233.1:p.Val177Leu