Canonical Allele Identifier: CA174008

Gene: NDST1

Linked Data

• ClinVar Variation Id: 161412
• ClinVar RCV Id: RCV000148928 ; RCV002279948 ; RCV002463649 ; RCV003128390
• dbSNP Id: rs606231459
• ExAC: 5:149921213 G / A
• gnomAD v2: 5-149921213-G-A
• gnomAD v3: 5-150541651-G-A
• gnomAD v4: 5-150541651-G-A
• MyVariant Identifiers: chr5:g.149921213G>A (hg19) ; chr5:g.150541651G>A (hg38)
• PubMed: PMID:25125150

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150541651G>A , CM000667.2:g.150541651G>A	GRCh38
NC_000005.9:g.149921213G>A , CM000667.1:g.149921213G>A	GRCh37
NC_000005.8:g.149901406G>A	NCBI36
NG_041806.1:g.48874G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261797.7:c.1831G>A MANE Select	ENSP00000261797.6:p.Gly611Ser
ENST00000261797.6:c.1831G>A	ENSP00000261797.6:p.Gly611Ser
ENST00000523767.5:c.1831G>A	ENSP00000428604.1:p.Gly611Ser
NM_001301063.1:c.1831G>A	NP_001287992.1:p.Gly611Ser
NM_001543.4:c.1831G>A	NP_001534.1:p.Gly611Ser
XM_005268433.1:c.1831G>A	XP_005268490.1:p.Gly611Ser
XM_005268434.1:c.1831G>A	XP_005268491.1:p.Gly611Ser
XM_005268435.3:c.1831G>A	XP_005268492.1:p.Gly611Ser
XM_005268436.2:c.1831G>A	XP_005268493.1:p.Gly611Ser
XM_005268437.3:c.1831G>A	XP_005268494.1:p.Gly611Ser
XM_005268438.1:c.1831G>A	XP_005268495.1:p.Gly611Ser
XM_005268439.1:c.1831G>A	XP_005268496.1:p.Gly611Ser
XM_005268442.2:c.559G>A	XP_005268499.1:p.Gly187Ser
XM_006714782.1:c.1831G>A	XP_006714845.1:p.Gly611Ser
XM_006714783.1:c.1831G>A	XP_006714846.1:p.Gly611Ser
XM_011537638.1:c.844G>A	XP_011535940.1:p.Gly282Ser
XR_245854.1:n.2309G>A
XM_005268434.2:c.1831G>A	XP_005268491.1:p.Gly611Ser
XM_005268435.4:c.1831G>A	XP_005268492.1:p.Gly611Ser
XM_005268436.3:c.1831G>A	XP_005268493.1:p.Gly611Ser
XM_005268437.5:c.1831G>A	XP_005268494.1:p.Gly611Ser
XM_005268442.4:c.559G>A	XP_005268499.1:p.Gly187Ser
XM_006714782.2:c.1831G>A	XP_006714845.1:p.Gly611Ser
XM_011537638.2:c.844G>A	XP_011535940.1:p.Gly282Ser
XM_017009427.1:c.1831G>A	XP_016864916.1:p.Gly611Ser
XM_017009428.1:c.1831G>A	XP_016864917.1:p.Gly611Ser
XM_017009429.2:c.1831G>A	XP_016864918.1:p.Gly611Ser
XM_017009430.2:c.1831G>A	XP_016864919.1:p.Gly611Ser
XM_017009431.1:c.1831G>A	XP_016864920.1:p.Gly611Ser
XM_017009432.1:c.844G>A	XP_016864921.1:p.Gly282Ser
XM_017009433.1:c.844G>A	XP_016864922.1:p.Gly282Ser
XR_001742060.2:n.2339G>A
XR_001742061.1:n.2928G>A
XR_245854.2:n.2309G>A
NM_001543.5:c.1831G>A MANE Select	NP_001534.1:p.Gly611Ser
NM_001301063.2:c.1831G>A	NP_001287992.1:p.Gly611Ser