Canonical Allele Identifier: CA382897316

Gene: SLC37A4

Linked Data

• dbSNP Id: rs1943554621
• gnomAD v4: 11-119025992-A-G
• MyVariant Identifiers: chr11:g.118896702A>G (hg19) ; chr11:g.119025992A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119025992A>G , CM000673.2:g.119025992A>G	GRCh38
NC_000011.9:g.118896702A>G , CM000673.1:g.118896702A>G	GRCh37
NC_000011.8:g.118401912A>G	NCBI36
NG_013331.1:g.9914T>C , LRG_187:g.9914T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.1103T>C
ENST00000697845.1:n.1883T>C
ENST00000697846.1:n.1103T>C
ENST00000697847.1:n.1202-235T>C
ENST00000697848.1:n.1189T>C
ENST00000697849.1:n.2998T>C
ENST00000697850.1:n.1189T>C
ENST00000697851.1:n.2797T>C
ENST00000638186.1:n.1263T>C
ENST00000638360.1:n.1095T>C
ENST00000638925.1:n.1228T>C
ENST00000650539.1:n.1365T>C
ENST00000330775.9:c.959T>C	ENSP00000476242.2:p.Val320Ala
ENST00000357590.9:c.959T>C	ENSP00000476176.2:p.Val320Ala
ENST00000524428.5:n.1195T>C
ENST00000525039.5:n.1383T>C
ENST00000525102.5:n.1717T>C
ENST00000525372.5:n.1057T>C
ENST00000526275.5:n.1741T>C
ENST00000527992.5:n.1187T>C
ENST00000529510.5:n.647T>C
ENST00000530407.5:n.1109T>C
ENST00000532085.1:n.4340T>C
ENST00000538950.5:c.740T>C	ENSP00000475991.2:p.Val247Ala
ENST00000545985.5:c.959T>C	ENSP00000475241.2:p.Val320Ala
NM_001164277.1:c.959T>C , LRG_187t1:c.959T>C	NP_001157749.1:p.Val320Ala
NM_001164278.1:c.959T>C	NP_001157750.1:p.Val320Ala
NM_001164279.1:c.740T>C	NP_001157751.1:p.Val247Ala
NM_001164280.1:c.959T>C	NP_001157752.1:p.Val320Ala
NM_001467.5:c.959T>C	NP_001458.1:p.Val320Ala
NM_001164278.2:c.959T>C	NP_001157750.1:p.Val320Ala
NM_001164279.2:c.740T>C	NP_001157751.1:p.Val247Ala
NM_001164280.2:c.959T>C	NP_001157752.1:p.Val320Ala
NM_001467.6:c.959T>C	NP_001458.1:p.Val320Ala
NM_001164277.2:c.959T>C MANE Select	NP_001157749.1:p.Val320Ala