Canonical Allele Identifier: CA237223685

Gene: KRT75

Linked Data

• dbSNP Id: rs559407904
• gnomAD v2: 12-52827522-C-G
• gnomAD v3: 12-52433738-C-G
• gnomAD v4: 12-52433738-C-G
• MyVariant Identifiers: chr12:g.52827522C>G (hg19) ; chr12:g.52433738C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52433738C>G , CM000674.2:g.52433738C>G	GRCh38
NC_000012.11:g.52827522C>G , CM000674.1:g.52827522C>G	GRCh37
NC_000012.10:g.51113789C>G	NCBI36
NG_008403.1:g.5589G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252245.6:c.498+69G>C MANE Select	ENSP00000252245.5:n.498+69G>C
ENST00000252245.5:c.498+69G>C	ENSP00000252245.5:n.498+69G>C
NM_004693.2:c.498+69G>C	NP_004684.2:n.498+69G>C
NM_004693.3:c.498+69G>C MANE Select	NP_004684.2:n.498+69G>C