Canonical Allele Identifier: CA395643468

Gene: HSD3B7

Linked Data

• dbSNP Id: rs2056510783
• MyVariant Identifiers: chr16:g.30999280G>T (hg19) ; chr16:g.30987959G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30987959G>T , CM000678.2:g.30987959G>T	GRCh38
NC_000016.9:g.30999280G>T , CM000678.1:g.30999280G>T	GRCh37
NC_000016.8:g.30906781G>T	NCBI36
NG_012346.1:g.7762G>T
NG_041829.1:g.27550C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297679.10:c.886G>T MANE Select	ENSP00000297679.5:p.Val296Leu
ENST00000262520.10:c.*132G>T	ENSP00000262520.6:n.*132G>T
ENST00000297679.9:c.886G>T	ENSP00000297679.5:p.Val296Leu
NM_001142777.1:c.*132G>T	NP_001136249.1:n.*132G>T
NM_001142778.1:c.*132G>T	NP_001136250.1:n.*132G>T
NM_025193.3:c.886G>T	NP_079469.2:p.Val296Leu
XM_005255601.3:c.886G>T	XP_005255658.2:p.Val296Leu
XM_011545960.1:c.886G>T	XP_011544262.1:p.Val296Leu
XM_011545961.1:c.886G>T	XP_011544263.1:p.Val296Leu
XM_011545960.2:c.886G>T	XP_011544262.1:p.Val296Leu
XM_011545962.2:c.*132G>T	XP_011544264.1:n.*132G>T
XM_017023732.1:c.*132G>T	XP_016879221.1:n.*132G>T
NM_025193.4:c.886G>T MANE Select	NP_079469.2:p.Val296Leu
NM_001142777.2:c.*132G>T	NP_001136249.1:n.*132G>T
NM_001142778.2:c.*132G>T	NP_001136250.1:n.*132G>T