Canonical Allele Identifier: CA2791236252

Gene: HSD17B12

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.43706776C>G , CM000673.2:g.43706776C>G	GRCh38
NC_000011.9:g.43728326C>G , CM000673.1:g.43728326C>G	GRCh37
NC_000011.8:g.43684902C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278353.10:c.160+25789C>G MANE Select	ENSP00000278353.4:n.160+25789C>G
ENST00000527433.6:c.123+25972C>G	ENSP00000490749.1:n.123+25972C>G
ENST00000636007.1:c.160+25789C>G	ENSP00000490822.1:n.160+25789C>G
ENST00000636722.1:c.*20+25593C>G	ENSP00000490003.1:n.*20+25593C>G
ENST00000637401.1:c.160+25789C>G	ENSP00000490421.1:n.160+25789C>G
ENST00000638034.1:c.64+25419C>G	ENSP00000490701.1:n.64+25419C>G
ENST00000278353.8:c.160+25789C>G	ENSP00000278353.4:n.160+25789C>G
ENST00000395700.4:c.160+25789C>G	ENSP00000379052.4:n.160+25789C>G
ENST00000527433.5:n.125+25972C>G
ENST00000529261.5:n.377+33637C>G
ENST00000531185.5:c.160+25789C>G	ENSP00000436582.1:n.160+25789C>G
ENST00000532864.5:n.282-44135C>G
NM_016142.2:c.160+25789C>G	NP_057226.1:n.160+25789C>G
XM_011520156.1:c.-63+25593C>G	XP_011518458.1:n.-63+25593C>G
XM_017017881.1:c.64+25419C>G	XP_016873370.1:n.64+25419C>G
XM_024448571.1:c.-62-44135C>G	XP_024304339.1:n.-62-44135C>G
XM_024448572.1:c.-62-44135C>G	XP_024304340.1:n.-62-44135C>G
XM_024448573.1:c.-62-44135C>G	XP_024304341.1:n.-62-44135C>G
NM_016142.3:c.160+25789C>G MANE Select	NP_057226.1:n.160+25789C>G