Canonical Allele Identifier: CA392376892

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534575A>C (hg19) ; chr15:g.50242378A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242378A>C , CM000677.2:g.50242378A>C	GRCh38
NC_000015.9:g.50534575A>C , CM000677.1:g.50534575A>C	GRCh37
NC_000015.8:g.48321867A>C	NCBI36
NG_027487.1:g.28588T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1871T>G MANE Select	ENSP00000267845.3:p.Met624Arg
ENST00000267845.7:c.1871T>G	ENSP00000267845.3:p.Met624Arg
ENST00000543581.5:c.1772T>G	ENSP00000440252.1:p.Met591Arg
ENST00000559816.1:n.1615T>G
NM_001306146.1:c.1772T>G	NP_001293075.1:p.Met591Arg
NM_002112.3:c.1871T>G	NP_002103.2:p.Met624Arg
XM_011521479.1:c.1634T>G	XP_011519781.1:p.Met545Arg
XM_011521480.1:c.1439T>G	XP_011519782.1:p.Met480Arg
XM_017022094.1:c.1976T>G	XP_016877583.1:p.Met659Arg
XM_017022095.1:c.1877T>G	XP_016877584.1:p.Met626Arg
XM_017022096.1:c.1748T>G	XP_016877585.1:p.Met583Arg
XM_017022097.1:c.1739T>G	XP_016877586.1:p.Met580Arg
XM_017022098.1:c.1544T>G	XP_016877587.1:p.Met515Arg
NM_002112.4:c.1871T>G MANE Select	NP_002103.2:p.Met624Arg
NM_001306146.2:c.1772T>G	NP_001293075.1:p.Met591Arg