Canonical Allele Identifier: CA480073167
Gene: KRT1 HGNC NCBI

Linked Data

dbSNP Id: rs750849977
gnomAD v3: 12-52675496-G-C
gnomAD v4: 12-52675496-G-C
MyVariant Identifiers: chr12:g.53069280G>C (hg19) chr12:g.52675496G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52675496G>C , CM000674.2:g.52675496G>C GRCh38
NC_000012.11:g.53069280G>C , CM000674.1:g.53069280G>C GRCh37
NC_000012.10:g.51355547G>C NCBI36
NG_008364.1:g.9912C>G
NG_008364.2:g.9912C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252244.3:c.1632C>G MANE Select ENSP00000252244.3:p.Gly544=
NM_006121.3:c.1632C>G NP_006112.3:p.Gly544=
NM_006121.4:c.1632C>G MANE Select NP_006112.3:p.Gly544=
Search 100 bp 5'
Search 100 bp 3'