Canonical Allele Identifier: CA420983943

Gene: SLC50A1

Linked Data

• dbSNP Id: rs12726330
• gnomAD v2: 1-155108167-G-C
• gnomAD v4: 1-155135691-G-C
• MyVariant Identifiers: chr1:g.155108167G>C (hg19) ; chr1:g.155135691G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155135691G>C , CM000663.2:g.155135691G>C	GRCh38
NC_000001.10:g.155108167G>C , CM000663.1:g.155108167G>C	GRCh37
NC_000001.9:g.153374791G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475824.6:c.9+11G>C	ENSP00000497719.1:n.9+11G>C
ENST00000465546.5:n.299G>C
ENST00000475824.5:n.290+11G>C
ENST00000484157.5:c.9+11G>C	ENSP00000420189.1:n.9+11G>C
ENST00000490770.5:n.242+93G>C
NM_001287590.1:c.9+11G>C	NP_001274519.1:n.9+11G>C
NM_001287591.1:c.-17+93G>C	NP_001274520.1:n.-17+93G>C
NM_001287592.1:c.12+93G>C	NP_001274521.1:n.12+93G>C
XM_005245339.3:c.12+93G>C	XP_005245396.1:n.12+93G>C
XM_005245340.2:c.9+11G>C	XP_005245397.1:n.9+11G>C
XM_005245341.3:c.-17+11G>C	XP_005245398.1:n.-17+11G>C
XM_005245342.3:c.-17+93G>C	XP_005245399.1:n.-17+93G>C
NM_001287590.2:c.9+11G>C	NP_001274519.1:n.9+11G>C
NM_001287591.2:c.-17+93G>C	NP_001274520.1:n.-17+93G>C
NM_001287592.2:c.12+93G>C	NP_001274521.1:n.12+93G>C