Canonical Allele Identifier: CA384973778
Gene: KRT75 HGNC NCBI

Linked Data

dbSNP Id: rs1940180953
gnomAD v4: 12-52433887-G-A
MyVariant Identifiers: chr12:g.52827671G>A (hg19) chr12:g.52433887G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52433887G>A , CM000674.2:g.52433887G>A GRCh38
NC_000012.11:g.52827671G>A , CM000674.1:g.52827671G>A GRCh37
NC_000012.10:g.51113938G>A NCBI36
NG_008403.1:g.5440C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252245.6:c.418C>T MANE Select ENSP00000252245.5:p.Pro140Ser
ENST00000252245.5:c.418C>T ENSP00000252245.5:p.Pro140Ser
NM_004693.2:c.418C>T NP_004684.2:p.Pro140Ser
NM_004693.3:c.418C>T MANE Select NP_004684.2:p.Pro140Ser
Search 100 bp 5'
Search 100 bp 3'