Canonical Allele Identifier: CA229599485

Gene: SLC37A4

Linked Data

• dbSNP Id: rs989233312
• gnomAD v3: 11-119028138-C-A
• gnomAD v4: 11-119028138-C-A
• MyVariant Identifiers: chr11:g.118898848C>A (hg19) ; chr11:g.119028138C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119028138C>A , CM000673.2:g.119028138C>A	GRCh38
NC_000011.9:g.118898848C>A , CM000673.1:g.118898848C>A	GRCh37
NC_000011.8:g.118404058C>A	NCBI36
NG_013331.1:g.7769G>T , LRG_187:g.7769G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000529510.6:n.610+56G>T
ENST00000697845.1:n.534+56G>T
ENST00000697846.1:n.610+56G>T
ENST00000697847.1:n.610+56G>T
ENST00000697848.1:n.610+56G>T
ENST00000697849.1:n.1649+56G>T
ENST00000697850.1:n.610+56G>T
ENST00000697851.1:n.1705G>T
ENST00000638186.1:n.684+56G>T
ENST00000638360.1:n.618+56G>T
ENST00000638925.1:n.617+56G>T
ENST00000650539.1:n.786+56G>T
ENST00000330775.9:c.381+56G>T	ENSP00000476242.2:n.381+56G>T
ENST00000357590.9:c.381+56G>T	ENSP00000476176.2:n.381+56G>T
ENST00000524428.5:n.437G>T
ENST00000525039.5:n.804+56G>T
ENST00000525102.5:n.1138+56G>T
ENST00000525372.5:n.381+56G>T
ENST00000525787.1:n.732G>T
ENST00000526275.5:n.897G>T
ENST00000526626.6:n.344-266G>T
ENST00000527992.5:n.608+56G>T
ENST00000529510.5:n.399+56G>T
ENST00000530407.5:n.530+56G>T
ENST00000532085.1:n.2726G>T
ENST00000532888.6:n.676+56G>T
ENST00000538950.5:c.162+56G>T	ENSP00000475991.2:n.162+56G>T
ENST00000545985.5:c.381+56G>T	ENSP00000475241.2:n.381+56G>T
NM_001164277.1:c.381+56G>T , LRG_187t1:c.381+56G>T	NP_001157749.1:n.381+56G>T
NM_001164278.1:c.381+56G>T	NP_001157750.1:n.381+56G>T
NM_001164279.1:c.162+56G>T	NP_001157751.1:n.162+56G>T
NM_001164280.1:c.381+56G>T	NP_001157752.1:n.381+56G>T
NM_001467.5:c.381+56G>T	NP_001458.1:n.381+56G>T
NM_001164278.2:c.381+56G>T	NP_001157750.1:n.381+56G>T
NM_001164279.2:c.162+56G>T	NP_001157751.1:n.162+56G>T
NM_001164280.2:c.381+56G>T	NP_001157752.1:n.381+56G>T
NM_001467.6:c.381+56G>T	NP_001458.1:n.381+56G>T
NM_001164277.2:c.381+56G>T MANE Select	NP_001157749.1:n.381+56G>T