Canonical Allele Identifier: CA13540908

Gene: HSD17B12

Linked Data

• dbSNP Id: rs12577642
• gnomAD v2: 11-43728534-A-T
• gnomAD v3: 11-43706984-A-T
• gnomAD v4: 11-43706984-A-T
• MyVariant Identifiers: chr11:g.43728534A>T (hg19) ; chr11:g.43706984A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.43706984A>T , CM000673.2:g.43706984A>T	GRCh38
NC_000011.9:g.43728534A>T , CM000673.1:g.43728534A>T	GRCh37
NC_000011.8:g.43685110A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278353.10:c.160+25997A>T MANE Select	ENSP00000278353.4:n.160+25997A>T
ENST00000527433.6:c.123+26180A>T	ENSP00000490749.1:n.123+26180A>T
ENST00000636007.1:c.160+25997A>T	ENSP00000490822.1:n.160+25997A>T
ENST00000636722.1:c.*20+25801A>T	ENSP00000490003.1:n.*20+25801A>T
ENST00000637401.1:c.160+25997A>T	ENSP00000490421.1:n.160+25997A>T
ENST00000638034.1:c.64+25627A>T	ENSP00000490701.1:n.64+25627A>T
ENST00000278353.8:c.160+25997A>T	ENSP00000278353.4:n.160+25997A>T
ENST00000395700.4:c.160+25997A>T	ENSP00000379052.4:n.160+25997A>T
ENST00000527433.5:n.125+26180A>T
ENST00000529261.5:n.377+33845A>T
ENST00000531185.5:c.160+25997A>T	ENSP00000436582.1:n.160+25997A>T
ENST00000532864.5:n.282-43927A>T
NM_016142.2:c.160+25997A>T	NP_057226.1:n.160+25997A>T
XM_011520156.1:c.-63+25801A>T	XP_011518458.1:n.-63+25801A>T
XM_017017881.1:c.64+25627A>T	XP_016873370.1:n.64+25627A>T
XM_024448571.1:c.-62-43927A>T	XP_024304339.1:n.-62-43927A>T
XM_024448572.1:c.-62-43927A>T	XP_024304340.1:n.-62-43927A>T
XM_024448573.1:c.-62-43927A>T	XP_024304341.1:n.-62-43927A>T
NM_016142.3:c.160+25997A>T MANE Select	NP_057226.1:n.160+25997A>T