Canonical Allele Identifier: CA386493245

Gene: PAH

Linked Data

• gnomAD v4: 12-102843713-T-C
• MyVariant Identifiers: chr12:g.103237491T>C (hg19) ; chr12:g.102843713T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102843713T>C , CM000674.2:g.102843713T>C	GRCh38
NC_000012.11:g.103237491T>C , CM000674.1:g.103237491T>C	GRCh37
NC_000012.10:g.101761621T>C	NCBI36
NG_008690.1:g.78890A>G
NG_008690.2:g.119698A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1132A>G MANE Select	ENSP00000448059.1:p.Thr378Ala
ENST00000307000.7:c.1117A>G	ENSP00000303500.2:p.Thr373Ala
ENST00000549247.6:n.891A>G
ENST00000551114.2:n.794A>G
ENST00000553106.5:c.1132A>G	ENSP00000448059.1:p.Thr378Ala
ENST00000635477.1:c.236A>G
ENST00000635528.1:n.647A>G
NM_000277.1:c.1132A>G	NP_000268.1:p.Thr378Ala
XM_011538422.1:c.1075A>G	XP_011536724.1:p.Thr359Ala
NM_000277.2:c.1132A>G	NP_000268.1:p.Thr378Ala
NM_001354304.1:c.1132A>G	NP_001341233.1:p.Thr378Ala
NM_000277.3:c.1132A>G MANE Select	NP_000268.1:p.Thr378Ala
NM_001354304.2:c.1132A>G	NP_001341233.1:p.Thr378Ala