Canonical Allele Identifier: CA480073052
Gene: KRT1 HGNC NCBI

Linked Data

gnomAD v4: 12-52675421-T-C
MyVariant Identifiers: chr12:g.53069205T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52675421T>C , CM000674.2:g.52675421T>C GRCh38
NC_000012.11:g.53069205T>C , CM000674.1:g.53069205T>C GRCh37
NC_000012.10:g.51355472T>C NCBI36
NG_008364.1:g.9987A>G
NG_008364.2:g.9987A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252244.3:c.1707A>G MANE Select ENSP00000252244.3:p.Gly569=
NM_006121.3:c.1707A>G NP_006112.3:p.Gly569=
NM_006121.4:c.1707A>G MANE Select NP_006112.3:p.Gly569=
Search 100 bp 5'
Search 100 bp 3'