Canonical Allele Identifier: CA1144002

Gene: PKLR

Linked Data

• dbSNP Id: rs368559884
• ExAC: 1:155261778 G / A
• gnomAD v2: 1-155261778-G-A
• gnomAD v3: 1-155291987-G-A
• gnomAD v4: 1-155291987-G-A
• MyVariant Identifiers: chr1:g.155261778G>A (hg19) ; chr1:g.155291987G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155291987G>A , CM000663.2:g.155291987G>A	GRCh38
NC_000001.10:g.155261778G>A , CM000663.1:g.155261778G>A	GRCh37
NC_000001.9:g.153528402G>A	NCBI36
NG_011677.1:g.14448C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.1437-50C>T MANE Select	ENSP00000339933.4:n.1437-50C>T
ENST00000342741.4:c.1437-50C>T	ENSP00000339933.4:n.1437-50C>T
ENST00000392414.7:c.1344-50C>T	ENSP00000376214.3:n.1344-50C>T
NM_000298.5:c.1437-50C>T	NP_000289.1:n.1437-50C>T
NM_181871.3:c.1344-50C>T	NP_870986.1:n.1344-50C>T
XM_005245266.3:c.1596-50C>T	XP_005245323.1:n.1596-50C>T
XM_006711386.2:c.1245-50C>T	XP_006711449.1:n.1245-50C>T
XM_011509640.1:c.1245-50C>T	XP_011507942.1:n.1245-50C>T
NM_000298.6:c.1437-50C>T MANE Select	NP_000289.1:n.1437-50C>T
XM_006711386.4:c.1245-50C>T	XP_006711449.1:n.1245-50C>T
XM_011509640.3:c.1245-50C>T	XP_011507942.1:n.1245-50C>T
NM_181871.4:c.1344-50C>T	NP_870986.1:n.1344-50C>T