Canonical Allele Identifier: CA605240282

Gene: KRT75

Linked Data

• dbSNP Id: rs1242886345
• gnomAD v2: 12-52827582-C-T
• gnomAD v4: 12-52433798-C-T
• MyVariant Identifiers: chr12:g.52827582C>T (hg19) ; chr12:g.52433798C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52433798C>T , CM000674.2:g.52433798C>T	GRCh38
NC_000012.11:g.52827582C>T , CM000674.1:g.52827582C>T	GRCh37
NC_000012.10:g.51113849C>T	NCBI36
NG_008403.1:g.5529G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252245.6:c.498+9G>A MANE Select	ENSP00000252245.5:n.498+9G>A
ENST00000252245.5:c.498+9G>A	ENSP00000252245.5:n.498+9G>A
NM_004693.2:c.498+9G>A	NP_004684.2:n.498+9G>A
NM_004693.3:c.498+9G>A MANE Select	NP_004684.2:n.498+9G>A