Canonical Allele Identifier: CA384973918

Gene: KRT75

Linked Data

• dbSNP Id: rs1472544292
• gnomAD v3: 12-52433911-T-G
• gnomAD v4: 12-52433911-T-G
• MyVariant Identifiers: chr12:g.52827695T>G (hg19) ; chr12:g.52433911T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52433911T>G , CM000674.2:g.52433911T>G	GRCh38
NC_000012.11:g.52827695T>G , CM000674.1:g.52827695T>G	GRCh37
NC_000012.10:g.51113962T>G	NCBI36
NG_008403.1:g.5416A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252245.6:c.394A>C MANE Select	ENSP00000252245.5:p.Thr132Pro
ENST00000252245.5:c.394A>C	ENSP00000252245.5:p.Thr132Pro
NM_004693.2:c.394A>C	NP_004684.2:p.Thr132Pro
NM_004693.3:c.394A>C MANE Select	NP_004684.2:p.Thr132Pro