Canonical Allele Identifier: CA7554507

Gene: HDC

Linked Data

• dbSNP Id: rs746193079
• ExAC: 15:50534707 T / G
• gnomAD v2: 15-50534707-T-G
• gnomAD v3: 15-50242510-T-G
• gnomAD v4: 15-50242510-T-G
• MyVariant Identifiers: chr15:g.50534707T>G (hg19) ; chr15:g.50242510T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242510T>G , CM000677.2:g.50242510T>G	GRCh38
NC_000015.9:g.50534707T>G , CM000677.1:g.50534707T>G	GRCh37
NC_000015.8:g.48321999T>G	NCBI36
NG_027487.1:g.28456A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1739A>C MANE Select	ENSP00000267845.3:p.Lys580Thr
ENST00000267845.7:c.1739A>C	ENSP00000267845.3:p.Lys580Thr
ENST00000543581.5:c.1640A>C	ENSP00000440252.1:p.Lys547Thr
ENST00000559816.1:n.1483A>C
NM_001306146.1:c.1640A>C	NP_001293075.1:p.Lys547Thr
NM_002112.3:c.1739A>C	NP_002103.2:p.Lys580Thr
XM_011521479.1:c.1502A>C	XP_011519781.1:p.Lys501Thr
XM_011521480.1:c.1307A>C	XP_011519782.1:p.Lys436Thr
XM_017022094.1:c.1844A>C	XP_016877583.1:p.Lys615Thr
XM_017022095.1:c.1745A>C	XP_016877584.1:p.Lys582Thr
XM_017022096.1:c.1616A>C	XP_016877585.1:p.Lys539Thr
XM_017022097.1:c.1607A>C	XP_016877586.1:p.Lys536Thr
XM_017022098.1:c.1412A>C	XP_016877587.1:p.Lys471Thr
NM_002112.4:c.1739A>C MANE Select	NP_002103.2:p.Lys580Thr
NM_001306146.2:c.1640A>C	NP_001293075.1:p.Lys547Thr