Canonical Allele Identifier: CA145980

Gene: PAH

Linked Data

• ClinVar Variation Id: 92736
• ClinVar RCV Id: RCV000078514 ; RCV000088845 ; RCV000604437
• dbSNP Id: rs17842947
• ExAC: 12:103306550 A / G
• gnomAD v2: 12-103306550-A-G
• gnomAD v3: 12-102912772-A-G
• gnomAD v4: 12-102912772-A-G
• MyVariant Identifiers: chr12:g.103306550A>G (hg19) ; chr12:g.102912772A>G (hg38)
• ERepo: CA145980/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102912772A>G , CM000674.2:g.102912772A>G	GRCh38
NC_000012.11:g.103306550A>G , CM000674.1:g.103306550A>G	GRCh37
NC_000012.10:g.101830680A>G	NCBI36
NG_008690.1:g.9831T>C
NG_008690.2:g.50639T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.168+19T>C MANE Select	ENSP00000448059.1:n.168+19T>C
ENST00000307000.7:c.153+19T>C	ENSP00000303500.2:n.153+19T>C
ENST00000546844.1:c.168+19T>C	ENSP00000446658.1:n.168+19T>C
ENST00000548677.2:n.255+19T>C
ENST00000548928.1:n.90+19T>C
ENST00000549111.5:n.264+19T>C
ENST00000550978.6:c.152+19T>C
ENST00000551337.5:c.168+19T>C	ENSP00000447620.1:n.168+19T>C
ENST00000551988.5:n.257+19T>C
ENST00000553106.5:c.168+19T>C	ENSP00000448059.1:n.168+19T>C
ENST00000635500.1:n.136+19T>C
NM_000277.1:c.168+19T>C	NP_000268.1:n.168+19T>C
XM_011538422.1:c.168+19T>C	XP_011536724.1:n.168+19T>C
NM_000277.2:c.168+19T>C	NP_000268.1:n.168+19T>C
NM_001354304.1:c.168+19T>C	NP_001341233.1:n.168+19T>C
XM_017019370.2:c.168+19T>C	XP_016874859.1:n.168+19T>C
NM_000277.3:c.168+19T>C MANE Select	NP_000268.1:n.168+19T>C
NM_001354304.2:c.168+19T>C	NP_001341233.1:n.168+19T>C