Canonical Allele Identifier: CA14086587

Gene: HYKK

Linked Data

• dbSNP Id: rs2036534
• gnomAD v2: 15-78826948-T-C
• gnomAD v3: 15-78534606-T-C
• gnomAD v4: 15-78534606-T-C
• MyVariant Identifiers: chr15:g.78826948T>C (hg19) ; chr15:g.78534606T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.78534606T>C , CM000677.2:g.78534606T>C	GRCh38
NC_000015.9:g.78826948T>C , CM000677.1:g.78826948T>C	GRCh37
NC_000015.8:g.76614003T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000388988.9:c.*936T>C MANE Select	ENSP00000373640.4:n.*936T>C
ENST00000408962.6:c.662-2694T>C	ENSP00000386197.2:n.662-2694T>C
ENST00000563233.2:c.662-2694T>C	ENSP00000454850.1:n.662-2694T>C
ENST00000569878.5:c.2058T>C	ENSP00000455459.1:n.2058T>C
NM_001083612.1:c.662-2694T>C	NP_001077081.1:n.662-2694T>C
NM_001013619.3:c.*936T>C	NP_001013641.2:n.*936T>C
NM_001013619.4:c.*936T>C MANE Select	NP_001013641.2:n.*936T>C
NM_001083612.2:c.662-2694T>C	NP_001077081.1:n.662-2694T>C