Canonical Allele Identifier: CA382897731

Gene: SLC37A4

Linked Data

• dbSNP Id: rs1943557328
• gnomAD v4: 11-119026025-G-A
• MyVariant Identifiers: chr11:g.118896735G>A (hg19) ; chr11:g.119026025G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119026025G>A , CM000673.2:g.119026025G>A	GRCh38
NC_000011.9:g.118896735G>A , CM000673.1:g.118896735G>A	GRCh37
NC_000011.8:g.118401945G>A	NCBI36
NG_013331.1:g.9881C>T , LRG_187:g.9881C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.1070C>T
ENST00000697845.1:n.1850C>T
ENST00000697846.1:n.1070C>T
ENST00000697847.1:n.1202-268C>T
ENST00000697848.1:n.1156C>T
ENST00000697849.1:n.2965C>T
ENST00000697850.1:n.1156C>T
ENST00000697851.1:n.2764C>T
ENST00000638186.1:n.1230C>T
ENST00000638360.1:n.1062C>T
ENST00000638925.1:n.1195C>T
ENST00000650539.1:n.1332C>T
ENST00000330775.9:c.926C>T	ENSP00000476242.2:p.Ala309Val
ENST00000357590.9:c.926C>T	ENSP00000476176.2:p.Ala309Val
ENST00000524428.5:n.1162C>T
ENST00000525039.5:n.1350C>T
ENST00000525102.5:n.1684C>T
ENST00000525372.5:n.1024C>T
ENST00000526275.5:n.1708C>T
ENST00000527992.5:n.1154C>T
ENST00000529510.5:n.614C>T
ENST00000530407.5:n.1076C>T
ENST00000532085.1:n.4307C>T
ENST00000538950.5:c.707C>T	ENSP00000475991.2:p.Ala236Val
ENST00000545985.5:c.926C>T	ENSP00000475241.2:p.Ala309Val
NM_001164277.1:c.926C>T , LRG_187t1:c.926C>T	NP_001157749.1:p.Ala309Val
NM_001164278.1:c.926C>T	NP_001157750.1:p.Ala309Val
NM_001164279.1:c.707C>T	NP_001157751.1:p.Ala236Val
NM_001164280.1:c.926C>T	NP_001157752.1:p.Ala309Val
NM_001467.5:c.926C>T	NP_001458.1:p.Ala309Val
NM_001164278.2:c.926C>T	NP_001157750.1:p.Ala309Val
NM_001164279.2:c.707C>T	NP_001157751.1:p.Ala236Val
NM_001164280.2:c.926C>T	NP_001157752.1:p.Ala309Val
NM_001467.6:c.926C>T	NP_001458.1:p.Ala309Val
NM_001164277.2:c.926C>T MANE Select	NP_001157749.1:p.Ala309Val