Canonical Allele Identifier: CA374123369

Gene: HSD17B3

Linked Data

• gnomAD v4: 9-96240897-G-A
• MyVariant Identifiers: chr9:g.99003179G>A (hg19) ; chr9:g.96240897G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96240897G>A , CM000671.2:g.96240897G>A	GRCh38
NC_000009.11:g.99003179G>A , CM000671.1:g.99003179G>A	GRCh37
NC_000009.10:g.98043000G>A	NCBI36
NG_008157.1:g.66256C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000375262.4:c.672+3432C>T	ENSP00000364411.2:n.672+3432C>T
ENST00000375263.8:c.683C>T MANE Select	ENSP00000364412.3:p.Pro228Leu
ENST00000463517.2:n.2225C>T
ENST00000464104.6:n.1621C>T
ENST00000467499.6:c.*382C>T	ENSP00000498077.1:n.*382C>T
ENST00000484816.2:n.34C>T
ENST00000494814.6:n.233C>T
ENST00000643789.1:c.2975C>T
ENST00000648146.1:c.683C>T	ENSP00000497238.1:p.Pro228Leu
ENST00000648332.1:c.360C>T	ENSP00000497562.1:n.360C>T
ENST00000648799.1:c.575C>T	ENSP00000498039.1:p.Pro192Leu
ENST00000650005.1:c.612C>T	ENSP00000498121.1:n.612C>T
ENST00000375262.3:c.672+3432C>T	ENSP00000364411.2:n.672+3432C>T
ENST00000375263.7:c.683C>T	ENSP00000364412.3:p.Pro228Leu
ENST00000464104.5:n.536C>T
ENST00000484816.1:n.33C>T
ENST00000494814.5:n.242C>T
NM_000197.1:c.683C>T	NP_000188.1:p.Pro228Leu
XM_005251970.3:c.323C>T	XP_005252027.1:p.Pro108Leu
XM_011518618.1:c.683C>T	XP_011516920.1:p.Pro228Leu
XM_011518619.1:c.683C>T	XP_011516921.1:p.Pro228Leu
XM_011518620.1:c.575C>T	XP_011516922.1:p.Pro192Leu
XM_011518621.1:c.*4C>T	XP_011516923.1:n.*4C>T
NM_000197.2:c.683C>T MANE Select	NP_000188.1:p.Pro228Leu
XM_011518618.2:c.683C>T	XP_011516920.1:p.Pro228Leu
XM_011518619.2:c.683C>T	XP_011516921.1:p.Pro228Leu
XM_017014671.1:c.683C>T	XP_016870160.1:p.Pro228Leu
XM_017014672.1:c.683C>T	XP_016870161.1:p.Pro228Leu
XM_017014673.2:c.647C>T	XP_016870162.1:p.Pro216Leu
XM_017014674.1:c.575C>T	XP_016870163.1:p.Pro192Leu
XM_017014675.1:c.521C>T	XP_016870164.1:p.Pro174Leu
XM_017014677.1:c.323C>T	XP_016870166.1:p.Pro108Leu
XM_024447529.1:c.521C>T	XP_024303297.1:p.Pro174Leu
XR_002956778.1:n.3155C>T