Canonical Allele Identifier: CA8018042

Gene: HSD3B7

Linked Data

• dbSNP Id: rs376746447
• ExAC: 16:30998198 G / T
• gnomAD v2: 16-30998198-G-T
• gnomAD v4: 16-30986877-G-T
• COSMIC: COSM1679028
• MyVariant Identifiers: chr16:g.30998198G>T (hg19) ; chr16:g.30986877G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30986877G>T , CM000678.2:g.30986877G>T	GRCh38
NC_000016.9:g.30998198G>T , CM000678.1:g.30998198G>T	GRCh37
NC_000016.8:g.30905699G>T	NCBI36
NG_012346.1:g.6680G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297679.10:c.569G>T MANE Select	ENSP00000297679.5:p.Arg190Leu
ENST00000262520.10:c.531+173G>T	ENSP00000262520.6:n.531+173G>T
ENST00000297679.9:c.569G>T	ENSP00000297679.5:p.Arg190Leu
NM_001142777.1:c.531+173G>T	NP_001136249.1:n.531+173G>T
NM_001142778.1:c.531+173G>T	NP_001136250.1:n.531+173G>T
NM_025193.3:c.569G>T	NP_079469.2:p.Arg190Leu
XM_005255601.3:c.569G>T	XP_005255658.2:p.Arg190Leu
XM_011545960.1:c.569G>T	XP_011544262.1:p.Arg190Leu
XM_011545961.1:c.569G>T	XP_011544263.1:p.Arg190Leu
XM_011545962.1:c.531+173G>T	XP_011544264.1:n.531+173G>T
XM_011545960.2:c.569G>T	XP_011544262.1:p.Arg190Leu
XM_011545962.2:c.531+173G>T	XP_011544264.1:n.531+173G>T
XM_017023732.1:c.531+173G>T	XP_016879221.1:n.531+173G>T
NM_025193.4:c.569G>T MANE Select	NP_079469.2:p.Arg190Leu
NM_001142777.2:c.531+173G>T	NP_001136249.1:n.531+173G>T
NM_001142778.2:c.531+173G>T	NP_001136250.1:n.531+173G>T