Canonical Allele Identifier: CA10622808

Gene: SLC35A1 RARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.87512174T>G , CM000668.2:g.87512174T>G	GRCh38
NC_000006.11:g.88221892T>G , CM000668.1:g.88221892T>G	GRCh37
NC_000006.10:g.88278611T>G	NCBI36
NG_016207.1:g.44250T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_006416.5:c.*648T>G (SLC35A1) MANE Select	NP_006407.1:n.*648T>G
ENST00000369552.9:c.*648T>G (SLC35A1) MANE Select	ENSP00000358565.4:n.*648T>G
NM_001168398.1:c.*648T>G (SLC35A1)	NP_001161870.1:n.*648T>G
NM_001168398.2:c.*648T>G (SLC35A1)	NP_001161870.1:n.*648T>G
NM_006416.4:c.*648T>G (SLC35A1)	NP_006407.1:n.*648T>G
ENST00000369552.8:c.*648T>G (SLC35A1)	ENSP00000358565.4:n.*648T>G
ENST00000369556.7:c.*648T>G (SLC35A1)	ENSP00000358569.3:n.*648T>G
ENST00000369557.9:c.*848T>G (SLC35A1)	ENSP00000358570.5:n.*848T>G
XM_005248735.3:c.1197+2254A>C (RARS2)	XP_005248792.2:n.1197+2254A>C
XM_005248736.3:c.1197+2254A>C (RARS2)	XP_005248793.2:n.1197+2254A>C
XM_005248737.3:c.1197+2254A>C (RARS2)	XP_005248794.2:n.1197+2254A>C
XM_011535947.1:c.1722+2254A>C (RARS2)	XP_011534249.1:n.1722+2254A>C
XM_011535950.1:c.1197+2254A>C (RARS2)	XP_011534252.1:n.1197+2254A>C
XM_011535951.1:c.1197+2254A>C (RARS2)	XP_011534253.1:n.1197+2254A>C
XM_011535952.1:c.783+2254A>C (RARS2)	XP_011534254.1:n.783+2254A>C
XM_011535953.1:c.783+2254A>C (RARS2)	XP_011534255.1:n.783+2254A>C
XM_011535954.1:c.783+2254A>C (RARS2)	XP_011534256.1:n.783+2254A>C
XM_011535955.1:c.783+2254A>C (RARS2)	XP_011534257.1:n.783+2254A>C