Canonical Allele Identifier: CA342748437

Gene: PKLR

Linked Data

• dbSNP Id: rs1674489561
• gnomAD v4: 1-155290636-A-G
• MyVariant Identifiers: chr1:g.155260427A>G (hg19) ; chr1:g.155290636A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155290636A>G , CM000663.2:g.155290636A>G	GRCh38
NC_000001.10:g.155260427A>G , CM000663.1:g.155260427A>G	GRCh37
NC_000001.9:g.153527051A>G	NCBI36
NG_011677.1:g.15799T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.1661T>C MANE Select	ENSP00000339933.4:p.Val554Ala
ENST00000342741.4:c.1661T>C	ENSP00000339933.4:p.Val554Ala
ENST00000392414.7:c.1568T>C	ENSP00000376214.3:p.Val523Ala
NM_000298.5:c.1661T>C	NP_000289.1:p.Val554Ala
NM_181871.3:c.1568T>C	NP_870986.1:p.Val523Ala
XM_005245266.3:c.1820T>C	XP_005245323.1:p.Val607Ala
XM_006711386.2:c.1469T>C	XP_006711449.1:p.Val490Ala
XM_011509640.1:c.1469T>C	XP_011507942.1:p.Val490Ala
NM_000298.6:c.1661T>C MANE Select	NP_000289.1:p.Val554Ala
XM_006711386.4:c.1469T>C	XP_006711449.1:p.Val490Ala
XM_011509640.3:c.1469T>C	XP_011507942.1:p.Val490Ala
NM_181871.4:c.1568T>C	NP_870986.1:p.Val523Ala