Canonical Allele Identifier: CA237223707

Gene: KRT75

Linked Data

• dbSNP Id: rs1026484009
• gnomAD v2: 12-52827552-G-C
• gnomAD v4: 12-52433768-G-C
• MyVariant Identifiers: chr12:g.52827552G>C (hg19) ; chr12:g.52433768G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52433768G>C , CM000674.2:g.52433768G>C	GRCh38
NC_000012.11:g.52827552G>C , CM000674.1:g.52827552G>C	GRCh37
NC_000012.10:g.51113819G>C	NCBI36
NG_008403.1:g.5559C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252245.6:c.498+39C>G MANE Select	ENSP00000252245.5:n.498+39C>G
ENST00000252245.5:c.498+39C>G	ENSP00000252245.5:n.498+39C>G
NM_004693.2:c.498+39C>G	NP_004684.2:n.498+39C>G
NM_004693.3:c.498+39C>G MANE Select	NP_004684.2:n.498+39C>G