Canonical Allele Identifier: CA7554512

Gene: HDC

Linked Data

• dbSNP Id: rs755854524
• ExAC: 15:50534743 AAGG / A
• gnomAD v2: 15-50534743-AAGG-A
• gnomAD v4: 15-50242546-AAGG-A
• MyVariant Identifiers: chr15:g.50534744_50534746del (hg19) ; chr15:g.50242547_50242549del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242551_50242553del , CM000677.2:g.50242551_50242553del	GRCh38
NC_000015.9:g.50534748_50534750del , CM000677.1:g.50534748_50534750del	GRCh37
NC_000015.8:g.48322040_48322042del	NCBI36
NG_027487.1:g.28417_28419del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1700_1702del MANE Select	ENSP00000267845.3:p.Ser567del
ENST00000267845.7:c.1700_1702del	ENSP00000267845.3:p.Ser567del
ENST00000543581.5:c.1601_1603del	ENSP00000440252.1:p.Ser534del
ENST00000559816.1:n.1444_1446del
NM_001306146.1:c.1601_1603del	NP_001293075.1:p.Ser534del
NM_002112.3:c.1700_1702del	NP_002103.2:p.Ser567del
XM_011521479.1:c.1463_1465del	XP_011519781.1:p.Ser488del
XM_011521480.1:c.1268_1270del	XP_011519782.1:p.Ser423del
XM_017022094.1:c.1805_1807del	XP_016877583.1:p.Ser602del
XM_017022095.1:c.1706_1708del	XP_016877584.1:p.Ser569del
XM_017022096.1:c.1577_1579del	XP_016877585.1:p.Ser526del
XM_017022097.1:c.1568_1570del	XP_016877586.1:p.Ser523del
XM_017022098.1:c.1373_1375del	XP_016877587.1:p.Ser458del
NM_002112.4:c.1700_1702del MANE Select	NP_002103.2:p.Ser567del
NM_001306146.2:c.1601_1603del	NP_001293075.1:p.Ser534del