Canonical Allele Identifier: CA237261412
Gene: KRT1 HGNC NCBI

Linked Data

dbSNP Id: rs933213835
gnomAD v4: 12-52675378-T-G
MyVariant Identifiers: chr12:g.53069162T>G (hg19) chr12:g.52675378T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52675378T>G , CM000674.2:g.52675378T>G GRCh38
NC_000012.11:g.53069162T>G , CM000674.1:g.53069162T>G GRCh37
NC_000012.10:g.51355429T>G NCBI36
NG_008364.1:g.10030A>C
NG_008364.2:g.10030A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252244.3:c.1750A>C MANE Select ENSP00000252244.3:p.Ser584Arg
NM_006121.3:c.1750A>C NP_006112.3:p.Ser584Arg
NM_006121.4:c.1750A>C MANE Select NP_006112.3:p.Ser584Arg
Search 100 bp 5'
Search 100 bp 3'