Canonical Allele Identifier: CA395642571

Gene: HSD3B7

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30987822C>G , CM000678.2:g.30987822C>G	GRCh38
NC_000016.9:g.30999143C>G , CM000678.1:g.30999143C>G	GRCh37
NC_000016.8:g.30906644C>G	NCBI36
NG_012346.1:g.7625C>G
NG_041829.1:g.27687G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297679.10:c.749C>G MANE Select	ENSP00000297679.5:p.Thr250Ser
ENST00000262520.10:c.586C>G	ENSP00000262520.6:p.Pro196Ala
ENST00000297679.9:c.749C>G	ENSP00000297679.5:p.Thr250Ser
NM_001142777.1:c.586C>G	NP_001136249.1:p.Pro196Ala
NM_001142778.1:c.586C>G	NP_001136250.1:p.Pro196Ala
NM_025193.3:c.749C>G	NP_079469.2:p.Thr250Ser
XM_005255601.3:c.749C>G	XP_005255658.2:p.Thr250Ser
XM_011545960.1:c.749C>G	XP_011544262.1:p.Thr250Ser
XM_011545961.1:c.749C>G	XP_011544263.1:p.Thr250Ser
XM_011545962.1:c.586C>G	XP_011544264.1:p.Pro196Ala
XM_011545960.2:c.749C>G	XP_011544262.1:p.Thr250Ser
XM_011545962.2:c.586C>G	XP_011544264.1:p.Pro196Ala
XM_017023732.1:c.586C>G	XP_016879221.1:p.Pro196Ala
NM_025193.4:c.749C>G MANE Select	NP_079469.2:p.Thr250Ser
NM_001142777.2:c.586C>G	NP_001136249.1:p.Pro196Ala
NM_001142778.2:c.586C>G	NP_001136250.1:p.Pro196Ala