Canonical Allele Identifier: CA2429834265
Community Standard Title: NM_004493.3(HSD17B10):c.192+269G>C
Gene: HSD17B10 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53433453C>G , CM000685.2:g.53433453C>G GRCh38
NC_000023.10:g.53460400C>G , CM000685.1:g.53460400C>G GRCh37
NC_000023.9:g.53477125C>G NCBI36
NG_008153.1:g.5924G>C , LRG_450:g.5924G>C

Transcript Alleles

HGVS Amino-acid Change
NM_004493.3:c.192+269G>C MANE Select NP_004484.1:n.192+269G>C
ENST00000168216.11:c.192+269G>C MANE Select ENSP00000168216.6:n.192+269G>C
NM_001037811.2:c.192+269G>C , LRG_450t2:c.192+269G>C NP_001032900.1:n.192+269G>C
NM_004493.2:c.192+269G>C , LRG_450t1:c.192+269G>C NP_004484.1:n.192+269G>C
ENST00000168216.10:c.192+269G>C ENSP00000168216.6:n.192+269G>C
ENST00000375298.4:c.192+269G>C ENSP00000364447.4:n.192+269G>C
ENST00000375304.9:c.192+269G>C ENSP00000364453.5:n.192+269G>C
ENST00000495986.1:n.324+269G>C
ENST00000495986.2:n.336+269G>C
ENST00000682365.1:n.486G>C
ENST00000684692.1:c.192+269G>C ENSP00000506792.1:n.192+269G>C