Canonical Allele Identifier: CA361764669

Gene: NDST1

Linked Data

• ClinVar Variation Id: 435946
• ClinVar RCV Id: RCV000503071
• dbSNP Id: rs1261991074
• gnomAD v2: 5-149907669-C-T
• gnomAD v4: 5-150528107-C-T
• MyVariant Identifiers: chr5:g.149907669C>T (hg19) ; chr5:g.150528107C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150528107C>T , CM000667.2:g.150528107C>T	GRCh38
NC_000005.9:g.149907669C>T , CM000667.1:g.149907669C>T	GRCh37
NC_000005.8:g.149887862C>T	NCBI36
NG_041806.1:g.35330C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261797.7:c.817C>T MANE Select	ENSP00000261797.6:p.His273Tyr
ENST00000261797.6:c.817C>T	ENSP00000261797.6:p.His273Tyr
ENST00000523767.5:c.817C>T	ENSP00000428604.1:p.His273Tyr
NM_001301063.1:c.817C>T	NP_001287992.1:p.His273Tyr
NM_001543.4:c.817C>T	NP_001534.1:p.His273Tyr
XM_005268433.1:c.817C>T	XP_005268490.1:p.His273Tyr
XM_005268434.1:c.817C>T	XP_005268491.1:p.His273Tyr
XM_005268435.3:c.817C>T	XP_005268492.1:p.His273Tyr
XM_005268436.2:c.817C>T	XP_005268493.1:p.His273Tyr
XM_005268437.3:c.817C>T	XP_005268494.1:p.His273Tyr
XM_005268438.1:c.817C>T	XP_005268495.1:p.His273Tyr
XM_005268439.1:c.817C>T	XP_005268496.1:p.His273Tyr
XM_005268441.1:c.817C>T	XP_005268498.1:p.His273Tyr
XM_006714782.1:c.817C>T	XP_006714845.1:p.His273Tyr
XM_006714783.1:c.817C>T	XP_006714846.1:p.His273Tyr
XM_011537638.1:c.-171C>T	XP_011535940.1:n.-171C>T
XR_245854.1:n.1291C>T
XM_005268434.2:c.817C>T	XP_005268491.1:p.His273Tyr
XM_005268435.4:c.817C>T	XP_005268492.1:p.His273Tyr
XM_005268436.3:c.817C>T	XP_005268493.1:p.His273Tyr
XM_005268437.5:c.817C>T	XP_005268494.1:p.His273Tyr
XM_005268442.4:c.-460C>T	XP_005268499.1:n.-460C>T
XM_006714782.2:c.817C>T	XP_006714845.1:p.His273Tyr
XM_011537638.2:c.-171C>T	XP_011535940.1:n.-171C>T
XM_017009427.1:c.817C>T	XP_016864916.1:p.His273Tyr
XM_017009428.1:c.817C>T	XP_016864917.1:p.His273Tyr
XM_017009429.2:c.817C>T	XP_016864918.1:p.His273Tyr
XM_017009430.2:c.817C>T	XP_016864919.1:p.His273Tyr
XM_017009431.1:c.817C>T	XP_016864920.1:p.His273Tyr
XM_017009432.1:c.-171C>T	XP_016864921.1:n.-171C>T
XM_017009433.1:c.-171C>T	XP_016864922.1:n.-171C>T
XR_001742060.2:n.1321C>T
XR_001742061.1:n.1910C>T
XR_245854.2:n.1291C>T
NM_001543.5:c.817C>T MANE Select	NP_001534.1:p.His273Tyr
NM_001301063.2:c.817C>T	NP_001287992.1:p.His273Tyr