Canonical Allele Identifier: CA6580133
Gene: KRT75 HGNC NCBI

Linked Data

dbSNP Id: rs757342495
ExAC: 12:52827568 G / A
gnomAD v2: 12-52827568-G-A
gnomAD v3: 12-52433784-G-A
gnomAD v4: 12-52433784-G-A
MyVariant Identifiers: chr12:g.52827568G>A (hg19) chr12:g.52433784G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52433784G>A , CM000674.2:g.52433784G>A GRCh38
NC_000012.11:g.52827568G>A , CM000674.1:g.52827568G>A GRCh37
NC_000012.10:g.51113835G>A NCBI36
NG_008403.1:g.5543C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252245.6:c.498+23C>T MANE Select ENSP00000252245.5:n.498+23C>T
ENST00000252245.5:c.498+23C>T ENSP00000252245.5:n.498+23C>T
NM_004693.2:c.498+23C>T NP_004684.2:n.498+23C>T
NM_004693.3:c.498+23C>T MANE Select NP_004684.2:n.498+23C>T
Search 100 bp 5'
Search 100 bp 3'