Canonical Allele Identifier: CA229400

Gene: PAH

Linked Data

• ClinVar Variation Id: 102568
• ClinVar RCV Id: RCV000088802 ; RCV000672236
• dbSNP Id: rs62644465
• gnomAD v4: 12-102840496-G-A
• MyVariant Identifiers: chr12:g.103234274G>A (hg19) ; chr12:g.102840496G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102840496G>A , CM000674.2:g.102840496G>A	GRCh38
NC_000012.11:g.103234274G>A , CM000674.1:g.103234274G>A	GRCh37
NC_000012.10:g.101758404G>A	NCBI36
NG_008690.1:g.82107C>T
NG_008690.2:g.122915C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.1219C>T MANE Select	ENSP00000448059.1:p.Pro407Ser
ENST00000307000.7:c.1204C>T	ENSP00000303500.2:p.Pro402Ser
ENST00000551114.2:n.881C>T
ENST00000553106.5:c.1219C>T	ENSP00000448059.1:p.Pro407Ser
ENST00000635477.1:c.323C>T
ENST00000635528.1:n.734C>T
NM_000277.1:c.1219C>T	NP_000268.1:p.Pro407Ser
XM_011538422.1:c.1162C>T	XP_011536724.1:p.Pro388Ser
NM_000277.2:c.1219C>T	NP_000268.1:p.Pro407Ser
NM_001354304.1:c.1219C>T	NP_001341233.1:p.Pro407Ser
NM_000277.3:c.1219C>T MANE Select	NP_000268.1:p.Pro407Ser
NM_001354304.2:c.1219C>T	NP_001341233.1:p.Pro407Ser