Canonical Allele Identifier: CA346684726

Gene: SLC3A1

Linked Data

• dbSNP Id: rs886042834
• gnomAD v4: 2-44312754-G-C
• MyVariant Identifiers: chr2:g.44539893G>C (hg19) ; chr2:g.44312754G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.44312754G>C , CM000664.2:g.44312754G>C	GRCh38
NC_000002.11:g.44539893G>C , CM000664.1:g.44539893G>C	GRCh37
NC_000002.10:g.44393397G>C	NCBI36
NG_008233.1:g.42297G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260649.11:c.1500+1G>C MANE Select	ENSP00000260649.6:n.1500+1G>C
ENST00000649044.1:c.*1511+1G>C	ENSP00000497083.1:n.*1511+1G>C
ENST00000260649.10:c.1500+1G>C	ENSP00000260649.6:n.1500+1G>C
ENST00000409229.7:c.1500+1G>C	ENSP00000386620.3:n.1500+1G>C
ENST00000409294.5:c.360+1G>C	ENSP00000386852.1:n.360+1G>C
ENST00000409380.5:c.666+1G>C	ENSP00000386709.1:n.666+1G>C
ENST00000409387.5:c.1500+1G>C	ENSP00000387308.1:n.1500+1G>C
ENST00000409740.3:c.393+1G>C	ENSP00000386677.3:n.393+1G>C
ENST00000409741.5:c.1501G>C	ENSP00000386954.1:p.Val501Leu
ENST00000611973.4:c.1500+1G>C	ENSP00000483618.1:n.1500+1G>C
NM_000341.3:c.1500+1G>C	NP_000332.2:n.1500+1G>C
XM_011533047.1:c.1500+1G>C	XP_011531349.1:n.1500+1G>C
XM_011533047.3:c.1500+1G>C	XP_011531349.1:n.1500+1G>C
NM_000341.4:c.1500+1G>C MANE Select	NP_000332.2:n.1500+1G>C