Canonical Allele Identifier: CA242468823

Gene: PAH

Linked Data

• dbSNP Id: rs556323537
• gnomAD v3: 12-102912670-T-G
• gnomAD v4: 12-102912670-T-G
• MyVariant Identifiers: chr12:g.103306448T>G (hg19) ; chr12:g.102912670T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102912670T>G , CM000674.2:g.102912670T>G	GRCh38
NC_000012.11:g.103306448T>G , CM000674.1:g.103306448T>G	GRCh37
NC_000012.10:g.101830578T>G	NCBI36
NG_008690.1:g.9933A>C
NG_008690.2:g.50741A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.168+121A>C MANE Select	ENSP00000448059.1:n.168+121A>C
ENST00000307000.7:c.153+121A>C	ENSP00000303500.2:n.153+121A>C
ENST00000546844.1:c.168+121A>C	ENSP00000446658.1:n.168+121A>C
ENST00000548677.2:n.255+121A>C
ENST00000548928.1:n.90+121A>C
ENST00000549111.5:n.264+121A>C
ENST00000550978.6:c.152+121A>C
ENST00000551337.5:c.168+121A>C	ENSP00000447620.1:n.168+121A>C
ENST00000551988.5:n.257+121A>C
ENST00000553106.5:c.168+121A>C	ENSP00000448059.1:n.168+121A>C
ENST00000635500.1:n.136+121A>C
NM_000277.1:c.168+121A>C	NP_000268.1:n.168+121A>C
XM_011538422.1:c.168+121A>C	XP_011536724.1:n.168+121A>C
NM_000277.2:c.168+121A>C	NP_000268.1:n.168+121A>C
NM_001354304.1:c.168+121A>C	NP_001341233.1:n.168+121A>C
XM_017019370.2:c.168+121A>C	XP_016874859.1:n.168+121A>C
NM_000277.3:c.168+121A>C MANE Select	NP_000268.1:n.168+121A>C
NM_001354304.2:c.168+121A>C	NP_001341233.1:n.168+121A>C