Canonical Allele Identifier: CA384973710
Gene: KRT75 HGNC NCBI

Linked Data

gnomAD v4: 12-52433874-C-A
MyVariant Identifiers: chr12:g.52827658C>A (hg19) chr12:g.52433874C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52433874C>A , CM000674.2:g.52433874C>A GRCh38
NC_000012.11:g.52827658C>A , CM000674.1:g.52827658C>A GRCh37
NC_000012.10:g.51113925C>A NCBI36
NG_008403.1:g.5453G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252245.6:c.431G>T MANE Select ENSP00000252245.5:p.Arg144Leu
ENST00000252245.5:c.431G>T ENSP00000252245.5:p.Arg144Leu
NM_004693.2:c.431G>T NP_004684.2:p.Arg144Leu
NM_004693.3:c.431G>T MANE Select NP_004684.2:p.Arg144Leu
Search 100 bp 5'
Search 100 bp 3'