Canonical Allele Identifier: CA229724

Gene: PAH

Linked Data

• ClinVar Variation Id: 102810
• ClinVar RCV Id: RCV000089063 ; RCV000340479
• dbSNP Id: rs62508694
• ExAC: 12:103246702 C / G
• gnomAD v2: 12-103246702-C-G
• gnomAD v4: 12-102852924-C-G
• MyVariant Identifiers: chr12:g.103246702C>G (hg19) ; chr12:g.102852924C>G (hg38)
• ERepo: CA229724/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852924C>G , CM000674.2:g.102852924C>G	GRCh38
NC_000012.11:g.103246702C>G , CM000674.1:g.103246702C>G	GRCh37
NC_000012.10:g.101770832C>G	NCBI36
NG_008690.1:g.69679G>C
NG_008690.2:g.110487G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.733G>C MANE Select	ENSP00000448059.1:p.Val245Leu
ENST00000307000.7:c.718G>C	ENSP00000303500.2:p.Val240Leu
ENST00000549247.6:n.492G>C
ENST00000553106.5:c.733G>C	ENSP00000448059.1:p.Val245Leu
NM_000277.1:c.733G>C	NP_000268.1:p.Val245Leu
XM_011538422.1:c.733G>C	XP_011536724.1:p.Val245Leu
NM_000277.2:c.733G>C	NP_000268.1:p.Val245Leu
NM_001354304.1:c.733G>C	NP_001341233.1:p.Val245Leu
NM_000277.3:c.733G>C MANE Select	NP_000268.1:p.Val245Leu
NM_001354304.2:c.733G>C	NP_001341233.1:p.Val245Leu