Canonical Allele Identifier: CA6586042
Gene: KRT1 HGNC NCBI

Linked Data

dbSNP Id: rs771998586
ExAC: 12:53069172 G / A
gnomAD v2: 12-53069172-G-A
gnomAD v3: 12-52675388-G-A
gnomAD v4: 12-52675388-G-A
MyVariant Identifiers: chr12:g.53069172G>A (hg19) chr12:g.52675388G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52675388G>A , CM000674.2:g.52675388G>A GRCh38
NC_000012.11:g.53069172G>A , CM000674.1:g.53069172G>A GRCh37
NC_000012.10:g.51355439G>A NCBI36
NG_008364.1:g.10020C>T
NG_008364.2:g.10020C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252244.3:c.1740C>T MANE Select ENSP00000252244.3:p.Ser580=
NM_006121.3:c.1740C>T NP_006112.3:p.Ser580=
NM_006121.4:c.1740C>T MANE Select NP_006112.3:p.Ser580=
Search 100 bp 5'
Search 100 bp 3'