Canonical Allele Identifier: CA392376798

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534535G>C (hg19) ; chr15:g.50242338G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242338G>C , CM000677.2:g.50242338G>C	GRCh38
NC_000015.9:g.50534535G>C , CM000677.1:g.50534535G>C	GRCh37
NC_000015.8:g.48321827G>C	NCBI36
NG_027487.1:g.28628C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1911C>G MANE Select	ENSP00000267845.3:p.Tyr637Ter
ENST00000267845.7:c.1911C>G	ENSP00000267845.3:p.Tyr637Ter
ENST00000543581.5:c.1812C>G	ENSP00000440252.1:p.Tyr604Ter
ENST00000559816.1:n.1655C>G
NM_001306146.1:c.1812C>G	NP_001293075.1:p.Tyr604Ter
NM_002112.3:c.1911C>G	NP_002103.2:p.Tyr637Ter
XM_011521479.1:c.1674C>G	XP_011519781.1:p.Tyr558Ter
XM_011521480.1:c.1479C>G	XP_011519782.1:p.Tyr493Ter
XM_017022094.1:c.2016C>G	XP_016877583.1:p.Tyr672Ter
XM_017022095.1:c.1917C>G	XP_016877584.1:p.Tyr639Ter
XM_017022096.1:c.1788C>G	XP_016877585.1:p.Tyr596Ter
XM_017022097.1:c.1779C>G	XP_016877586.1:p.Tyr593Ter
XM_017022098.1:c.1584C>G	XP_016877587.1:p.Tyr528Ter
NM_002112.4:c.1911C>G MANE Select	NP_002103.2:p.Tyr637Ter
NM_001306146.2:c.1812C>G	NP_001293075.1:p.Tyr604Ter