Canonical Allele Identifier: CA382897704

Gene: SLC37A4

Linked Data

• gnomAD v4: 11-119026020-T-A
• MyVariant Identifiers: chr11:g.118896730T>A (hg19) ; chr11:g.119026020T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119026020T>A , CM000673.2:g.119026020T>A	GRCh38
NC_000011.9:g.118896730T>A , CM000673.1:g.118896730T>A	GRCh37
NC_000011.8:g.118401940T>A	NCBI36
NG_013331.1:g.9886A>T , LRG_187:g.9886A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.1075A>T
ENST00000697845.1:n.1855A>T
ENST00000697846.1:n.1075A>T
ENST00000697847.1:n.1202-263A>T
ENST00000697848.1:n.1161A>T
ENST00000697849.1:n.2970A>T
ENST00000697850.1:n.1161A>T
ENST00000697851.1:n.2769A>T
ENST00000638186.1:n.1235A>T
ENST00000638360.1:n.1067A>T
ENST00000638925.1:n.1200A>T
ENST00000650539.1:n.1337A>T
ENST00000330775.9:c.931A>T	ENSP00000476242.2:p.Met311Leu
ENST00000357590.9:c.931A>T	ENSP00000476176.2:p.Met311Leu
ENST00000524428.5:n.1167A>T
ENST00000525039.5:n.1355A>T
ENST00000525102.5:n.1689A>T
ENST00000525372.5:n.1029A>T
ENST00000526275.5:n.1713A>T
ENST00000527992.5:n.1159A>T
ENST00000529510.5:n.619A>T
ENST00000530407.5:n.1081A>T
ENST00000532085.1:n.4312A>T
ENST00000538950.5:c.712A>T	ENSP00000475991.2:p.Met238Leu
ENST00000545985.5:c.931A>T	ENSP00000475241.2:p.Met311Leu
NM_001164277.1:c.931A>T , LRG_187t1:c.931A>T	NP_001157749.1:p.Met311Leu
NM_001164278.1:c.931A>T	NP_001157750.1:p.Met311Leu
NM_001164279.1:c.712A>T	NP_001157751.1:p.Met238Leu
NM_001164280.1:c.931A>T	NP_001157752.1:p.Met311Leu
NM_001467.5:c.931A>T	NP_001458.1:p.Met311Leu
NM_001164278.2:c.931A>T	NP_001157750.1:p.Met311Leu
NM_001164279.2:c.712A>T	NP_001157751.1:p.Met238Leu
NM_001164280.2:c.931A>T	NP_001157752.1:p.Met311Leu
NM_001467.6:c.931A>T	NP_001458.1:p.Met311Leu
NM_001164277.2:c.931A>T MANE Select	NP_001157749.1:p.Met311Leu