Canonical Allele Identifier: CA384981653
Gene: KRT6B HGNC NCBI

Linked Data

gnomAD v4: 12-52447778-C-G
MyVariant Identifiers: chr12:g.52841562C>G (hg19) chr12:g.52447778C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52447778C>G , CM000674.2:g.52447778C>G GRCh38
NC_000012.11:g.52841562C>G , CM000674.1:g.52841562C>G GRCh37
NC_000012.10:g.51127829C>G NCBI36
NG_008299.1:g.9349G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000252252.4:c.1424G>C MANE Select ENSP00000252252.3:p.Arg475Thr
ENST00000252252.3:c.1424G>C ENSP00000252252.3:p.Arg475Thr
NM_005555.3:c.1424G>C NP_005546.2:p.Arg475Thr
NM_005555.4:c.1424G>C MANE Select NP_005546.2:p.Arg475Thr
Search 100 bp 5'
Search 100 bp 3'