Canonical Allele Identifier: CA6528194

Gene: SLC38A1

Linked Data

• ClinVar Variation Id: 733611
• ClinVar RCV Id: RCV000908930
• dbSNP Id: rs151105739
• ExAC: 12:46599885 A / C
• gnomAD v2: 12-46599885-A-C
• gnomAD v3: 12-46206102-A-C
• gnomAD v4: 12-46206102-A-C
• MyVariant Identifiers: chr12:g.46599885A>C (hg19) ; chr12:g.46206102A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.46206102A>C , CM000674.2:g.46206102A>C	GRCh38
NC_000012.11:g.46599885A>C , CM000674.1:g.46599885A>C	GRCh37
NC_000012.10:g.44886152A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398637.10:c.624T>G MANE Select	ENSP00000381634.4:p.Pro208=
ENST00000398637.9:c.624T>G	ENSP00000381634.4:p.Pro208=
ENST00000439706.5:c.624T>G	ENSP00000398142.1:p.Pro208=
ENST00000546893.5:c.624T>G	ENSP00000447853.1:p.Pro208=
ENST00000549049.5:c.624T>G	ENSP00000449607.1:p.Pro208=
ENST00000549633.5:n.681T>G
ENST00000552197.5:c.624T>G	ENSP00000449756.1:p.Pro208=
ENST00000612161.4:c.624T>G	ENSP00000478907.1:p.Pro208=
NM_001077484.1:c.624T>G	NP_001070952.1:p.Pro208=
NM_001278387.1:c.624T>G	NP_001265316.1:p.Pro208=
NM_001278388.1:c.624T>G	NP_001265317.1:p.Pro208=
NM_001278389.1:c.624T>G	NP_001265318.1:p.Pro208=
NM_001278390.1:c.624T>G	NP_001265319.1:p.Pro208=
NM_030674.3:c.624T>G	NP_109599.3:p.Pro208=
XM_011538784.1:c.624T>G	XP_011537086.1:p.Pro208=
XM_011538785.1:c.624T>G	XP_011537087.1:p.Pro208=
XM_011538786.1:c.624T>G	XP_011537088.1:p.Pro208=
XM_011538787.1:c.624T>G	XP_011537089.1:p.Pro208=
XM_011538784.2:c.624T>G	XP_011537086.1:p.Pro208=
XM_011538786.2:c.624T>G	XP_011537088.1:p.Pro208=
XM_011538787.2:c.624T>G	XP_011537089.1:p.Pro208=
XM_017019990.1:c.624T>G	XP_016875479.1:p.Pro208=
NM_001077484.2:c.624T>G	NP_001070952.1:p.Pro208=
NM_001278387.2:c.624T>G	NP_001265316.1:p.Pro208=
NM_001278388.2:c.624T>G	NP_001265317.1:p.Pro208=
NM_001278389.2:c.624T>G	NP_001265318.1:p.Pro208=
NM_030674.4:c.624T>G MANE Select	NP_109599.3:p.Pro208=