Canonical Allele Identifier: CA392376968

Gene: HDC

Linked Data

• dbSNP Id: rs1251880635
• gnomAD v3: 15-50242409-T-G
• gnomAD v4: 15-50242409-T-G
• MyVariant Identifiers: chr15:g.50534606T>G (hg19) ; chr15:g.50242409T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242409T>G , CM000677.2:g.50242409T>G	GRCh38
NC_000015.9:g.50534606T>G , CM000677.1:g.50534606T>G	GRCh37
NC_000015.8:g.48321898T>G	NCBI36
NG_027487.1:g.28557A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1840A>C MANE Select	ENSP00000267845.3:p.Ile614Leu
ENST00000267845.7:c.1840A>C	ENSP00000267845.3:p.Ile614Leu
ENST00000543581.5:c.1741A>C	ENSP00000440252.1:p.Ile581Leu
ENST00000559816.1:n.1584A>C
NM_001306146.1:c.1741A>C	NP_001293075.1:p.Ile581Leu
NM_002112.3:c.1840A>C	NP_002103.2:p.Ile614Leu
XM_011521479.1:c.1603A>C	XP_011519781.1:p.Ile535Leu
XM_011521480.1:c.1408A>C	XP_011519782.1:p.Ile470Leu
XM_017022094.1:c.1945A>C	XP_016877583.1:p.Ile649Leu
XM_017022095.1:c.1846A>C	XP_016877584.1:p.Ile616Leu
XM_017022096.1:c.1717A>C	XP_016877585.1:p.Ile573Leu
XM_017022097.1:c.1708A>C	XP_016877586.1:p.Ile570Leu
XM_017022098.1:c.1513A>C	XP_016877587.1:p.Ile505Leu
NM_002112.4:c.1840A>C MANE Select	NP_002103.2:p.Ile614Leu
NM_001306146.2:c.1741A>C	NP_001293075.1:p.Ile581Leu