Canonical Allele Identifier: CA392377027

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534636C>A (hg19) ; chr15:g.50242439C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242439C>A , CM000677.2:g.50242439C>A	GRCh38
NC_000015.9:g.50534636C>A , CM000677.1:g.50534636C>A	GRCh37
NC_000015.8:g.48321928C>A	NCBI36
NG_027487.1:g.28527G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1810G>T MANE Select	ENSP00000267845.3:p.Val604Leu
ENST00000267845.7:c.1810G>T	ENSP00000267845.3:p.Val604Leu
ENST00000543581.5:c.1711G>T	ENSP00000440252.1:p.Val571Leu
ENST00000559816.1:n.1554G>T
NM_001306146.1:c.1711G>T	NP_001293075.1:p.Val571Leu
NM_002112.3:c.1810G>T	NP_002103.2:p.Val604Leu
XM_011521479.1:c.1573G>T	XP_011519781.1:p.Val525Leu
XM_011521480.1:c.1378G>T	XP_011519782.1:p.Val460Leu
XM_017022094.1:c.1915G>T	XP_016877583.1:p.Val639Leu
XM_017022095.1:c.1816G>T	XP_016877584.1:p.Val606Leu
XM_017022096.1:c.1687G>T	XP_016877585.1:p.Val563Leu
XM_017022097.1:c.1678G>T	XP_016877586.1:p.Val560Leu
XM_017022098.1:c.1483G>T	XP_016877587.1:p.Val495Leu
NM_002112.4:c.1810G>T MANE Select	NP_002103.2:p.Val604Leu
NM_001306146.2:c.1711G>T	NP_001293075.1:p.Val571Leu