Canonical Allele Identifier: CA384973623

Gene: KRT75

Linked Data

• dbSNP Id: rs201256120
• gnomAD v2: 12-52827640-C-A
• gnomAD v4: 12-52433856-C-A
• MyVariant Identifiers: chr12:g.52827640C>A (hg19) ; chr12:g.52433856C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52433856C>A , CM000674.2:g.52433856C>A	GRCh38
NC_000012.11:g.52827640C>A , CM000674.1:g.52827640C>A	GRCh37
NC_000012.10:g.51113907C>A	NCBI36
NG_008403.1:g.5471G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252245.6:c.449G>T MANE Select	ENSP00000252245.5:p.Arg150Leu
ENST00000252245.5:c.449G>T	ENSP00000252245.5:p.Arg150Leu
NM_004693.2:c.449G>T	NP_004684.2:p.Arg150Leu
NM_004693.3:c.449G>T MANE Select	NP_004684.2:p.Arg150Leu