Canonical Allele Identifier: CA384927337

Gene: KRT6B

Linked Data

• dbSNP Id: rs1451112543
• gnomAD v2: 12-52845426-G-A
• gnomAD v4: 12-52451642-G-A
• MyVariant Identifiers: chr12:g.52845426G>A (hg19) ; chr12:g.52451642G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52451642G>A , CM000674.2:g.52451642G>A	GRCh38
NC_000012.11:g.52845426G>A , CM000674.1:g.52845426G>A	GRCh37
NC_000012.10:g.51131693G>A	NCBI36
NG_008299.1:g.5485C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252252.4:c.437C>T MANE Select	ENSP00000252252.3:p.Thr146Ile
ENST00000252252.3:c.437C>T	ENSP00000252252.3:p.Thr146Ile
NM_005555.3:c.437C>T	NP_005546.2:p.Thr146Ile
NM_005555.4:c.437C>T MANE Select	NP_005546.2:p.Thr146Ile