Canonical Allele Identifier: CA382897081

Gene: SLC37A4

Linked Data

• gnomAD v4: 11-119025966-C-A
• MyVariant Identifiers: chr11:g.118896676C>A (hg19) ; chr11:g.119025966C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119025966C>A , CM000673.2:g.119025966C>A	GRCh38
NC_000011.9:g.118896676C>A , CM000673.1:g.118896676C>A	GRCh37
NC_000011.8:g.118401886C>A	NCBI36
NG_013331.1:g.9940G>T , LRG_187:g.9940G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000529510.6:n.1128+1G>T
ENST00000697845.1:n.1909G>T
ENST00000697846.1:n.1128+1G>T
ENST00000697847.1:n.1202-209G>T
ENST00000697848.1:n.1214+1G>T
ENST00000697849.1:n.3024G>T
ENST00000697850.1:n.1215G>T
ENST00000697851.1:n.2822+1G>T
ENST00000638186.1:n.1288+1G>T
ENST00000638360.1:n.1120+1G>T
ENST00000638925.1:n.1253+1G>T
ENST00000650539.1:n.1390+1G>T
ENST00000330775.9:c.984+1G>T	ENSP00000476242.2:n.984+1G>T
ENST00000357590.9:c.984+1G>T	ENSP00000476176.2:n.984+1G>T
ENST00000524428.5:n.1220+1G>T
ENST00000525039.5:n.1408+1G>T
ENST00000525102.5:n.1742+1G>T
ENST00000525372.5:n.1082+1G>T
ENST00000526275.5:n.1766+1G>T
ENST00000527992.5:n.1212+1G>T
ENST00000529510.5:n.672+1G>T
ENST00000530407.5:n.1134+1G>T
ENST00000532085.1:n.4366G>T
ENST00000538950.5:c.765+1G>T	ENSP00000475991.2:n.765+1G>T
ENST00000545985.5:c.984+1G>T	ENSP00000475241.2:n.984+1G>T
NM_001164277.1:c.984+1G>T , LRG_187t1:c.984+1G>T	NP_001157749.1:n.984+1G>T
NM_001164278.1:c.984+1G>T	NP_001157750.1:n.984+1G>T
NM_001164279.1:c.765+1G>T	NP_001157751.1:n.765+1G>T
NM_001164280.1:c.984+1G>T	NP_001157752.1:n.984+1G>T
NM_001467.5:c.984+1G>T	NP_001458.1:n.984+1G>T
NM_001164278.2:c.984+1G>T	NP_001157750.1:n.984+1G>T
NM_001164279.2:c.765+1G>T	NP_001157751.1:n.765+1G>T
NM_001164280.2:c.984+1G>T	NP_001157752.1:n.984+1G>T
NM_001467.6:c.984+1G>T	NP_001458.1:n.984+1G>T
NM_001164277.2:c.984+1G>T MANE Select	NP_001157749.1:n.984+1G>T