Canonical Allele Identifier: CA384973677
Gene: KRT75 HGNC NCBI

Linked Data

gnomAD v4: 12-52433865-G-A
MyVariant Identifiers: chr12:g.52827649G>A (hg19) chr12:g.52433865G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52433865G>A , CM000674.2:g.52433865G>A GRCh38
NC_000012.11:g.52827649G>A , CM000674.1:g.52827649G>A GRCh37
NC_000012.10:g.51113916G>A NCBI36
NG_008403.1:g.5462C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252245.6:c.440C>T MANE Select ENSP00000252245.5:p.Ala147Val
ENST00000252245.5:c.440C>T ENSP00000252245.5:p.Ala147Val
NM_004693.2:c.440C>T NP_004684.2:p.Ala147Val
NM_004693.3:c.440C>T MANE Select NP_004684.2:p.Ala147Val
Search 100 bp 5'
Search 100 bp 3'