Canonical Allele Identifier: CA516429223

Gene: HSD17B10

Linked Data

• MyVariant Identifiers: chrX:g.53459323G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53432375G>A , CM000685.2:g.53432375G>A	GRCh38
NC_000023.10:g.53459323G>A , CM000685.1:g.53459323G>A	GRCh37
NC_000023.9:g.53476048G>A	NCBI36
NG_008153.1:g.7001C>T , LRG_450:g.7001C>T
NG_033076.2:g.14521G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000495986.2:n.373C>T
ENST00000682365.1:n.1564C>T
ENST00000684251.1:n.73C>T
ENST00000684503.1:n.394C>T
ENST00000684692.1:c.229C>T	ENSP00000506792.1:p.Leu77=
ENST00000168216.11:c.229C>T MANE Select	ENSP00000168216.6:p.Leu77=
ENST00000168216.10:c.229C>T	ENSP00000168216.6:p.Leu77=
ENST00000375298.4:c.229C>T	ENSP00000364447.4:p.Leu77=
ENST00000375304.9:c.229C>T	ENSP00000364453.5:p.Leu77=
ENST00000495986.1:n.361C>T
NM_001037811.2:c.229C>T , LRG_450t2:c.229C>T	NP_001032900.1:p.Leu77=
NM_004493.2:c.229C>T , LRG_450t1:c.229C>T	NP_004484.1:p.Leu77=
NM_004493.3:c.229C>T MANE Select	NP_004484.1:p.Leu77=