Canonical Allele Identifier: CA6580139
Gene: KRT75 HGNC NCBI

Linked Data

dbSNP Id: rs774153838
ExAC: 12:52827615 A / G
MyVariant Identifiers: chr12:g.52827615A>G (hg19) chr12:g.52433831A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52433831A>G , CM000674.2:g.52433831A>G GRCh38
NC_000012.11:g.52827615A>G , CM000674.1:g.52827615A>G GRCh37
NC_000012.10:g.51113882A>G NCBI36
NG_008403.1:g.5496T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252245.6:c.474T>C MANE Select ENSP00000252245.5:p.Asn158=
ENST00000252245.5:c.474T>C ENSP00000252245.5:p.Asn158=
NM_004693.2:c.474T>C NP_004684.2:p.Asn158=
NM_004693.3:c.474T>C MANE Select NP_004684.2:p.Asn158=
Search 100 bp 5'
Search 100 bp 3'