Canonical Allele Identifier: CA129115800

Gene: NDST1

Linked Data

• ClinVar Variation Id: 452070
• ClinVar RCV Id: RCV000519525 ; RCV000678273
• dbSNP Id: rs777877507
• gnomAD v2: 5-149900855-C-G
• gnomAD v3: 5-150521293-C-G
• gnomAD v4: 5-150521293-C-G
• MyVariant Identifiers: chr5:g.149900855C>G (hg19) ; chr5:g.150521293C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150521293C>G , CM000667.2:g.150521293C>G	GRCh38
NC_000005.9:g.149900855C>G , CM000667.1:g.149900855C>G	GRCh37
NC_000005.8:g.149881048C>G	NCBI36
NG_041806.1:g.28516C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261797.7:c.39C>G MANE Select	ENSP00000261797.6:p.His13Gln
ENST00000261797.6:c.39C>G	ENSP00000261797.6:p.His13Gln
ENST00000518299.1:c.39C>G	ENSP00000430258.1:p.His13Gln
ENST00000519157.1:c.39C>G	ENSP00000427813.1:p.His13Gln
ENST00000522491.1:c.39C>G	ENSP00000429966.1:p.His13Gln
ENST00000523767.5:c.39C>G	ENSP00000428604.1:p.His13Gln
NM_001301063.1:c.39C>G	NP_001287992.1:p.His13Gln
NM_001543.4:c.39C>G	NP_001534.1:p.His13Gln
XM_005268433.1:c.39C>G	XP_005268490.1:p.His13Gln
XM_005268434.1:c.39C>G	XP_005268491.1:p.His13Gln
XM_005268435.3:c.39C>G	XP_005268492.1:p.His13Gln
XM_005268436.2:c.39C>G	XP_005268493.1:p.His13Gln
XM_005268437.3:c.39C>G	XP_005268494.1:p.His13Gln
XM_005268438.1:c.39C>G	XP_005268495.1:p.His13Gln
XM_005268439.1:c.39C>G	XP_005268496.1:p.His13Gln
XM_005268441.1:c.39C>G	XP_005268498.1:p.His13Gln
XM_006714782.1:c.39C>G	XP_006714845.1:p.His13Gln
XM_006714783.1:c.39C>G	XP_006714846.1:p.His13Gln
XM_011537638.1:c.-474-6511C>G	XP_011535940.1:n.-474-6511C>G
XR_245854.1:n.513C>G
XM_005268434.2:c.39C>G	XP_005268491.1:p.His13Gln
XM_005268435.4:c.39C>G	XP_005268492.1:p.His13Gln
XM_005268436.3:c.39C>G	XP_005268493.1:p.His13Gln
XM_005268437.5:c.39C>G	XP_005268494.1:p.His13Gln
XM_006714782.2:c.39C>G	XP_006714845.1:p.His13Gln
XM_011537638.2:c.-474-6511C>G	XP_011535940.1:n.-474-6511C>G
XM_017009427.1:c.39C>G	XP_016864916.1:p.His13Gln
XM_017009428.1:c.39C>G	XP_016864917.1:p.His13Gln
XM_017009429.2:c.39C>G	XP_016864918.1:p.His13Gln
XM_017009430.2:c.39C>G	XP_016864919.1:p.His13Gln
XM_017009431.1:c.39C>G	XP_016864920.1:p.His13Gln
XR_001742060.2:n.543C>G
XR_001742061.1:n.1132C>G
XR_245854.2:n.513C>G
NM_001543.5:c.39C>G MANE Select	NP_001534.1:p.His13Gln
NM_001301063.2:c.39C>G	NP_001287992.1:p.His13Gln