Canonical Allele Identifier: CA6583485
Gene: KRT71 HGNC NCBI
ClinVar Variation:
dbSNP:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52552726C>T , CM000674.2:g.52552726C>T GRCh38
NC_000012.11:g.52946510C>T , CM000674.1:g.52946510C>T GRCh37
NC_000012.10:g.51232777C>T NCBI36
NG_012426.1:g.5422G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000267119.6:c.352G>A MANE Select ENSP00000267119.5:p.Glu118Lys
ENST00000267119.5:c.352G>A ENSP00000267119.5:p.Glu118Lys
NM_033448.2:c.352G>A NP_258259.1:p.Glu118Lys
XM_017018749.1:c.106G>A XP_016874238.1:p.Glu36Lys
NM_033448.3:c.352G>A MANE Select NP_258259.1:p.Glu118Lys