Canonical Allele Identifier: CA477126531

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 1533735
• ClinVar RCV Id: RCV002071407
• dbSNP Id: rs137940481
• gnomAD v4: 11-119028203-G-A
• MyVariant Identifiers: chr11:g.118898913G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119028203G>A , CM000673.2:g.119028203G>A	GRCh38
NC_000011.9:g.118898913G>A , CM000673.1:g.118898913G>A	GRCh37
NC_000011.8:g.118404123G>A	NCBI36
NG_013331.1:g.7704C>T , LRG_187:g.7704C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.601C>T
ENST00000697845.1:n.525C>T
ENST00000697846.1:n.601C>T
ENST00000697847.1:n.601C>T
ENST00000697848.1:n.601C>T
ENST00000697849.1:n.1640C>T
ENST00000697850.1:n.601C>T
ENST00000697851.1:n.1640C>T
ENST00000638186.1:n.675C>T
ENST00000638360.1:n.609C>T
ENST00000638925.1:n.608C>T
ENST00000650539.1:n.777C>T
ENST00000330775.9:c.372C>T	ENSP00000476242.2:p.Val124=
ENST00000357590.9:c.372C>T	ENSP00000476176.2:p.Val124=
ENST00000524428.5:n.372C>T
ENST00000525039.5:n.795C>T
ENST00000525102.5:n.1129C>T
ENST00000525372.5:n.372C>T
ENST00000525787.1:n.667C>T
ENST00000526275.5:n.832C>T
ENST00000526626.6:n.344-331C>T
ENST00000527992.5:n.599C>T
ENST00000529510.5:n.390C>T
ENST00000530407.5:n.521C>T
ENST00000532085.1:n.2661C>T
ENST00000532888.6:n.667C>T
ENST00000538950.5:c.153C>T	ENSP00000475991.2:p.Val51=
ENST00000545985.5:c.372C>T	ENSP00000475241.2:p.Val124=
NM_001164277.1:c.372C>T , LRG_187t1:c.372C>T	NP_001157749.1:p.Val124=
NM_001164278.1:c.372C>T	NP_001157750.1:p.Val124=
NM_001164279.1:c.153C>T	NP_001157751.1:p.Val51=
NM_001164280.1:c.372C>T	NP_001157752.1:p.Val124=
NM_001467.5:c.372C>T	NP_001458.1:p.Val124=
NM_001164278.2:c.372C>T	NP_001157750.1:p.Val124=
NM_001164279.2:c.153C>T	NP_001157751.1:p.Val51=
NM_001164280.2:c.372C>T	NP_001157752.1:p.Val124=
NM_001467.6:c.372C>T	NP_001458.1:p.Val124=
NM_001164277.2:c.372C>T MANE Select	NP_001157749.1:p.Val124=