Canonical Allele Identifier: CA229454

Gene: PAH

Linked Data

• ClinVar Variation Id: 102606
• ClinVar RCV Id: RCV000088848 ; RCV000350592
• dbSNP Id: rs62507288
• ExAC: 12:103306564 C / G
• gnomAD v2: 12-103306564-C-G
• gnomAD v3: 12-102912786-C-G
• gnomAD v4: 12-102912786-C-G
• MyVariant Identifiers: chr12:g.103306564C>G (hg19) ; chr12:g.102912786C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102912786C>G , CM000674.2:g.102912786C>G	GRCh38
NC_000012.11:g.103306564C>G , CM000674.1:g.103306564C>G	GRCh37
NC_000012.10:g.101830694C>G	NCBI36
NG_008690.1:g.9817G>C
NG_008690.2:g.50625G>C

Transcript Alleles

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