Canonical Allele Identifier: CA607154757

Gene: PAH

Linked Data

• dbSNP Id: rs1380222258
• gnomAD v2: 12-103246798-G-C
• gnomAD v3: 12-102853020-G-C
• gnomAD v4: 12-102853020-G-C
• MyVariant Identifiers: chr12:g.103246798G>C (hg19) ; chr12:g.102853020G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102853020G>C , CM000674.2:g.102853020G>C	GRCh38
NC_000012.11:g.103246798G>C , CM000674.1:g.103246798G>C	GRCh37
NC_000012.10:g.101770928G>C	NCBI36
NG_008690.1:g.69583C>G
NG_008690.2:g.110391C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.707-70C>G MANE Select	ENSP00000448059.1:n.707-70C>G
ENST00000307000.7:c.692-70C>G	ENSP00000303500.2:n.692-70C>G
ENST00000549247.6:n.396C>G
ENST00000553106.5:c.707-70C>G	ENSP00000448059.1:n.707-70C>G
NM_000277.1:c.707-70C>G	NP_000268.1:n.707-70C>G
XM_011538422.1:c.707-70C>G	XP_011536724.1:n.707-70C>G
NM_000277.2:c.707-70C>G	NP_000268.1:n.707-70C>G
NM_001354304.1:c.707-70C>G	NP_001341233.1:n.707-70C>G
NM_000277.3:c.707-70C>G MANE Select	NP_000268.1:n.707-70C>G
NM_001354304.2:c.707-70C>G	NP_001341233.1:n.707-70C>G