Canonical Allele Identifier: CA14231011

Gene: HSDL1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.84145042A>G , CM000678.2:g.84145042A>G	GRCh38
NC_000016.9:g.84178647A>G , CM000678.1:g.84178647A>G	GRCh37
NC_000016.8:g.82736148A>G	NCBI36
NG_021174.1:g.4783A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_031463.5:c.-69+38T>C MANE Select	NP_113651.4:n.-69+38T>C
ENST00000219439.9:c.-69+38T>C MANE Select	ENSP00000219439.4:n.-69+38T>C
NM_001146051.1:c.-69+38T>C	NP_001139523.1:n.-69+38T>C
NM_001146051.2:c.-69+38T>C	NP_001139523.1:n.-69+38T>C
NM_031463.4:c.-69+38T>C	NP_113651.4:n.-69+38T>C
ENST00000219439.8:c.-69+38T>C	ENSP00000219439.4:n.-69+38T>C
ENST00000434463.7:c.-69+38T>C	ENSP00000407437.3:n.-69+38T>C
ENST00000562224.1:c.-57+38T>C	ENSP00000455797.1:n.-57+38T>C
ENST00000564998.1:c.-153+38T>C	ENSP00000454856.1:n.-153+38T>C
ENST00000567294.5:n.113+38T>C