Canonical Allele Identifier: CA237223726

Gene: KRT75

Linked Data

• dbSNP Id: rs201519352
• gnomAD v2: 12-52827585-G-A
• gnomAD v4: 12-52433801-G-A
• MyVariant Identifiers: chr12:g.52827585G>A (hg19) ; chr12:g.52433801G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52433801G>A , CM000674.2:g.52433801G>A	GRCh38
NC_000012.11:g.52827585G>A , CM000674.1:g.52827585G>A	GRCh37
NC_000012.10:g.51113852G>A	NCBI36
NG_008403.1:g.5526C>T

Transcript Alleles

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