Canonical Allele Identifier: CA229598257

Gene: SLC37A4

Linked Data

• dbSNP Id: rs376299401
• gnomAD v4: 11-119026990-G-A
• MyVariant Identifiers: chr11:g.118897700G>A (hg19) ; chr11:g.119026990G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119026990G>A , CM000673.2:g.119026990G>A	GRCh38
NC_000011.9:g.118897700G>A , CM000673.1:g.118897700G>A	GRCh37
NC_000011.8:g.118402910G>A	NCBI36
NG_013331.1:g.8916C>T , LRG_187:g.8916C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000529510.6:n.961C>T
ENST00000697845.1:n.885C>T
ENST00000697846.1:n.961C>T
ENST00000697847.1:n.961C>T
ENST00000697848.1:n.961C>T
ENST00000697849.1:n.2000C>T
ENST00000697850.1:n.961C>T
ENST00000697851.1:n.2321C>T
ENST00000638186.1:n.1035C>T
ENST00000638360.1:n.867C>T
ENST00000638925.1:n.968C>T
ENST00000650539.1:n.1137C>T
ENST00000330775.9:c.731C>T	ENSP00000476242.2:p.Thr244Ile
ENST00000357590.9:c.731C>T	ENSP00000476176.2:p.Thr244Ile
ENST00000524428.5:n.1053C>T
ENST00000525039.5:n.1155C>T
ENST00000525102.5:n.1489C>T
ENST00000525372.5:n.732C>T
ENST00000526275.5:n.1513C>T
ENST00000526626.6:n.694C>T
ENST00000527992.5:n.959C>T
ENST00000529510.5:n.505C>T
ENST00000530407.5:n.881C>T
ENST00000532085.1:n.3342C>T
ENST00000532888.6:n.1027C>T
ENST00000538950.5:c.512C>T	ENSP00000475991.2:p.Thr171Ile
ENST00000545985.5:c.731C>T	ENSP00000475241.2:p.Thr244Ile
NM_001164277.1:c.731C>T , LRG_187t1:c.731C>T	NP_001157749.1:p.Thr244Ile
NM_001164278.1:c.731C>T	NP_001157750.1:p.Thr244Ile
NM_001164279.1:c.512C>T	NP_001157751.1:p.Thr171Ile
NM_001164280.1:c.731C>T	NP_001157752.1:p.Thr244Ile
NM_001467.5:c.731C>T	NP_001458.1:p.Thr244Ile
NM_001164278.2:c.731C>T	NP_001157750.1:p.Thr244Ile
NM_001164279.2:c.512C>T	NP_001157751.1:p.Thr171Ile
NM_001164280.2:c.731C>T	NP_001157752.1:p.Thr244Ile
NM_001467.6:c.731C>T	NP_001458.1:p.Thr244Ile
NM_001164277.2:c.731C>T MANE Select	NP_001157749.1:p.Thr244Ile