Canonical Allele Identifier: CA6311798

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 459623
• ClinVar RCV Id: RCV000538033
• dbSNP Id: rs534894133
• ExAC: 11:118898356 G / T
• gnomAD v2: 11-118898356-G-T
• gnomAD v3: 11-119027646-G-T
• gnomAD v4: 11-119027646-G-T
• MyVariant Identifiers: chr11:g.118898356G>T (hg19) ; chr11:g.119027646G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119027646G>T , CM000673.2:g.119027646G>T	GRCh38
NC_000011.9:g.118898356G>T , CM000673.1:g.118898356G>T	GRCh37
NC_000011.8:g.118403566G>T	NCBI36
NG_013331.1:g.8260C>A , LRG_187:g.8260C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.837C>A
ENST00000697845.1:n.761C>A
ENST00000697846.1:n.837C>A
ENST00000697847.1:n.837C>A
ENST00000697848.1:n.837C>A
ENST00000697849.1:n.1876C>A
ENST00000697850.1:n.837C>A
ENST00000697851.1:n.2197C>A
ENST00000638186.1:n.911C>A
ENST00000638360.1:n.743C>A
ENST00000638925.1:n.844C>A
ENST00000650539.1:n.1013C>A
ENST00000330775.9:c.607C>A	ENSP00000476242.2:p.Pro203Thr
ENST00000357590.9:c.607C>A	ENSP00000476176.2:p.Pro203Thr
ENST00000524428.5:n.929C>A
ENST00000525039.5:n.1031C>A
ENST00000525102.5:n.1365C>A
ENST00000525372.5:n.608C>A
ENST00000526275.5:n.1389C>A
ENST00000526626.6:n.570C>A
ENST00000527992.5:n.835C>A
ENST00000529510.5:n.399+548C>A
ENST00000530407.5:n.757C>A
ENST00000532085.1:n.3218C>A
ENST00000532888.6:n.903C>A
ENST00000538950.5:c.388C>A	ENSP00000475991.2:p.Pro130Thr
ENST00000545985.5:c.607C>A	ENSP00000475241.2:p.Pro203Thr
NM_001164277.1:c.607C>A , LRG_187t1:c.607C>A	NP_001157749.1:p.Pro203Thr
NM_001164278.1:c.607C>A	NP_001157750.1:p.Pro203Thr
NM_001164279.1:c.388C>A	NP_001157751.1:p.Pro130Thr
NM_001164280.1:c.607C>A	NP_001157752.1:p.Pro203Thr
NM_001467.5:c.607C>A	NP_001458.1:p.Pro203Thr
NM_001164278.2:c.607C>A	NP_001157750.1:p.Pro203Thr
NM_001164279.2:c.388C>A	NP_001157751.1:p.Pro130Thr
NM_001164280.2:c.607C>A	NP_001157752.1:p.Pro203Thr
NM_001467.6:c.607C>A	NP_001458.1:p.Pro203Thr
NM_001164277.2:c.607C>A MANE Select	NP_001157749.1:p.Pro203Thr