Canonical Allele Identifier: CA3512382

Gene: NDST1

Linked Data

• ClinVar Variation Id: 520649
• ClinVar RCV Id: RCV000623829 ; RCV001860420 ; RCV003492120
• dbSNP Id: rs138962514
• ExAC: 5:149901150 C / T
• gnomAD v2: 5-149901150-C-T
• gnomAD v3: 5-150521588-C-T
• gnomAD v4: 5-150521588-C-T
• MyVariant Identifiers: chr5:g.149901150C>T (hg19) ; chr5:g.150521588C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150521588C>T , CM000667.2:g.150521588C>T	GRCh38
NC_000005.9:g.149901150C>T , CM000667.1:g.149901150C>T	GRCh37
NC_000005.8:g.149881343C>T	NCBI36
NG_041806.1:g.28811C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261797.7:c.334C>T MANE Select	ENSP00000261797.6:p.Arg112Cys
ENST00000261797.6:c.334C>T	ENSP00000261797.6:p.Arg112Cys
ENST00000519157.1:c.334C>T	ENSP00000427813.1:p.Arg112Cys
ENST00000523767.5:c.334C>T	ENSP00000428604.1:p.Arg112Cys
NM_001301063.1:c.334C>T	NP_001287992.1:p.Arg112Cys
NM_001543.4:c.334C>T	NP_001534.1:p.Arg112Cys
XM_005268433.1:c.334C>T	XP_005268490.1:p.Arg112Cys
XM_005268434.1:c.334C>T	XP_005268491.1:p.Arg112Cys
XM_005268435.3:c.334C>T	XP_005268492.1:p.Arg112Cys
XM_005268436.2:c.334C>T	XP_005268493.1:p.Arg112Cys
XM_005268437.3:c.334C>T	XP_005268494.1:p.Arg112Cys
XM_005268438.1:c.334C>T	XP_005268495.1:p.Arg112Cys
XM_005268439.1:c.334C>T	XP_005268496.1:p.Arg112Cys
XM_005268441.1:c.334C>T	XP_005268498.1:p.Arg112Cys
XM_006714782.1:c.334C>T	XP_006714845.1:p.Arg112Cys
XM_006714783.1:c.334C>T	XP_006714846.1:p.Arg112Cys
XM_011537638.1:c.-474-6216C>T	XP_011535940.1:n.-474-6216C>T
XR_245854.1:n.808C>T
XM_005268434.2:c.334C>T	XP_005268491.1:p.Arg112Cys
XM_005268435.4:c.334C>T	XP_005268492.1:p.Arg112Cys
XM_005268436.3:c.334C>T	XP_005268493.1:p.Arg112Cys
XM_005268437.5:c.334C>T	XP_005268494.1:p.Arg112Cys
XM_006714782.2:c.334C>T	XP_006714845.1:p.Arg112Cys
XM_011537638.2:c.-474-6216C>T	XP_011535940.1:n.-474-6216C>T
XM_017009427.1:c.334C>T	XP_016864916.1:p.Arg112Cys
XM_017009428.1:c.334C>T	XP_016864917.1:p.Arg112Cys
XM_017009429.2:c.334C>T	XP_016864918.1:p.Arg112Cys
XM_017009430.2:c.334C>T	XP_016864919.1:p.Arg112Cys
XM_017009431.1:c.334C>T	XP_016864920.1:p.Arg112Cys
XR_001742060.2:n.838C>T
XR_001742061.1:n.1427C>T
XR_245854.2:n.808C>T
NM_001543.5:c.334C>T MANE Select	NP_001534.1:p.Arg112Cys
NM_001301063.2:c.334C>T	NP_001287992.1:p.Arg112Cys