Canonical Allele Identifier: CA384927308
Gene: KRT6B HGNC NCBI

Linked Data

gnomAD v4: 12-52451634-T-G
MyVariant Identifiers: chr12:g.52845418T>G (hg19) chr12:g.52451634T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52451634T>G , CM000674.2:g.52451634T>G GRCh38
NC_000012.11:g.52845418T>G , CM000674.1:g.52845418T>G GRCh37
NC_000012.10:g.51131685T>G NCBI36
NG_008299.1:g.5493A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252252.4:c.445A>C MANE Select ENSP00000252252.3:p.Asn149His
ENST00000252252.3:c.445A>C ENSP00000252252.3:p.Asn149His
NM_005555.3:c.445A>C NP_005546.2:p.Asn149His
NM_005555.4:c.445A>C MANE Select NP_005546.2:p.Asn149His
Search 100 bp 5'
Search 100 bp 3'