Canonical Allele Identifier: CA1144447

Gene: PKLR

Linked Data

• dbSNP Id: rs118204087
• ExAC: 1:155270062 C / A
• gnomAD v2: 1-155270062-C-A
• gnomAD v4: 1-155300271-C-A
• MyVariant Identifiers: chr1:g.155270062C>A (hg19) ; chr1:g.155300271C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155300271C>A , CM000663.2:g.155300271C>A	GRCh38
NC_000001.10:g.155270062C>A , CM000663.1:g.155270062C>A	GRCh37
NC_000001.9:g.153536686C>A	NCBI36
NG_011677.1:g.6164G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342741.6:c.110G>T MANE Select	ENSP00000339933.4:p.Gly37Val
ENST00000434082.3:c.-21-62G>T	ENSP00000398037.3:n.-21-62G>T
ENST00000342741.4:c.110G>T	ENSP00000339933.4:p.Gly37Val
ENST00000392414.7:c.17G>T	ENSP00000376214.3:p.Gly6Val
ENST00000434082.2:c.77-62G>T	ENSP00000398037.2:n.77-62G>T
NM_000298.5:c.110G>T	NP_000289.1:p.Gly37Val
NM_181871.3:c.17G>T	NP_870986.1:p.Gly6Val
XM_005245266.3:c.269G>T	XP_005245323.1:p.Gly90Val
XM_006711386.2:c.-21-62G>T	XP_006711449.1:n.-21-62G>T
XM_011509639.1:c.269G>T	XP_011507941.1:p.Gly90Val
XM_011509640.1:c.-83G>T	XP_011507942.1:n.-83G>T
NM_000298.6:c.110G>T MANE Select	NP_000289.1:p.Gly37Val
XM_006711386.4:c.-21-62G>T	XP_006711449.1:n.-21-62G>T
XM_011509640.3:c.-83G>T	XP_011507942.1:n.-83G>T
XM_017001493.1:c.110G>T	XP_016856982.1:p.Gly37Val
NM_181871.4:c.17G>T	NP_870986.1:p.Gly6Val