Canonical Allele Identifier: CA15701949

Gene: HSD17B12

Linked Data

• dbSNP Id: rs7932905
• gnomAD v2: 11-43727577-G-A
• gnomAD v3: 11-43706027-G-A
• gnomAD v4: 11-43706027-G-A
• MyVariant Identifiers: chr11:g.43727577G>A (hg19) ; chr11:g.43706027G>A (hg38)
• Allelic Epigenome: Alellic Epigenome (raw data)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.43706027G>A , CM000673.2:g.43706027G>A	GRCh38
NC_000011.9:g.43727577G>A , CM000673.1:g.43727577G>A	GRCh37
NC_000011.8:g.43684153G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000278353.10:c.160+25040G>A MANE Select	ENSP00000278353.4:n.160+25040G>A
ENST00000527433.6:c.123+25223G>A	ENSP00000490749.1:n.123+25223G>A
ENST00000636007.1:c.160+25040G>A	ENSP00000490822.1:n.160+25040G>A
ENST00000636722.1:c.*20+24844G>A	ENSP00000490003.1:n.*20+24844G>A
ENST00000637401.1:c.160+25040G>A	ENSP00000490421.1:n.160+25040G>A
ENST00000638034.1:c.64+24670G>A	ENSP00000490701.1:n.64+24670G>A
ENST00000278353.8:c.160+25040G>A	ENSP00000278353.4:n.160+25040G>A
ENST00000395700.4:c.160+25040G>A	ENSP00000379052.4:n.160+25040G>A
ENST00000527433.5:n.125+25223G>A
ENST00000529261.5:n.377+32888G>A
ENST00000531185.5:c.160+25040G>A	ENSP00000436582.1:n.160+25040G>A
ENST00000532864.5:n.282-44884G>A
NM_016142.2:c.160+25040G>A	NP_057226.1:n.160+25040G>A
XM_011520156.1:c.-63+24844G>A	XP_011518458.1:n.-63+24844G>A
XM_017017881.1:c.64+24670G>A	XP_016873370.1:n.64+24670G>A
XM_024448571.1:c.-62-44884G>A	XP_024304339.1:n.-62-44884G>A
XM_024448572.1:c.-62-44884G>A	XP_024304340.1:n.-62-44884G>A
XM_024448573.1:c.-62-44884G>A	XP_024304341.1:n.-62-44884G>A
NM_016142.3:c.160+25040G>A MANE Select	NP_057226.1:n.160+25040G>A