Canonical Allele Identifier: CA382908474

Gene: SLC37A4

Linked Data

• ClinVar Variation Id: 2106038
• ClinVar RCV Id: RCV003045273
• MyVariant Identifiers: chr11:g.118899993C>A (hg19) ; chr11:g.119029283C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119029283C>A , CM000673.2:g.119029283C>A	GRCh38
NC_000011.9:g.118899993C>A , CM000673.1:g.118899993C>A	GRCh37
NC_000011.8:g.118405203C>A	NCBI36
NG_013331.1:g.6624G>T , LRG_187:g.6624G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000529510.6:n.316G>T
ENST00000697846.1:n.316G>T
ENST00000697847.1:n.316G>T
ENST00000697848.1:n.316G>T
ENST00000697849.1:n.560G>T
ENST00000697850.1:n.316G>T
ENST00000697851.1:n.560G>T
ENST00000638186.1:n.390G>T
ENST00000638360.1:n.324G>T
ENST00000638925.1:n.323G>T
ENST00000650539.1:n.492G>T
ENST00000330775.9:c.87G>T	ENSP00000476242.2:p.Lys29Asn
ENST00000357590.9:c.87G>T	ENSP00000476176.2:p.Lys29Asn
ENST00000524428.5:n.87G>T
ENST00000525039.5:n.510G>T
ENST00000525102.5:n.844G>T
ENST00000525372.5:n.87G>T
ENST00000525787.1:n.382G>T
ENST00000526626.6:n.282G>T
ENST00000527992.5:n.314G>T
ENST00000529510.5:n.105G>T
ENST00000530407.5:n.197+109G>T
ENST00000532085.1:n.1581G>T
ENST00000532888.6:n.282G>T
ENST00000534384.1:n.307G>T
ENST00000538950.5:c.-172+109G>T	ENSP00000475991.2:n.-172+109G>T
ENST00000545985.5:c.87G>T	ENSP00000475241.2:p.Lys29Asn
NM_001164277.1:c.87G>T , LRG_187t1:c.87G>T	NP_001157749.1:p.Lys29Asn
NM_001164278.1:c.87G>T	NP_001157750.1:p.Lys29Asn
NM_001164279.1:c.-172+109G>T	NP_001157751.1:n.-172+109G>T
NM_001164280.1:c.87G>T	NP_001157752.1:p.Lys29Asn
NM_001467.5:c.87G>T	NP_001458.1:p.Lys29Asn
NM_001164278.2:c.87G>T	NP_001157750.1:p.Lys29Asn
NM_001164279.2:c.-172+109G>T	NP_001157751.1:n.-172+109G>T
NM_001164280.2:c.87G>T	NP_001157752.1:p.Lys29Asn
NM_001467.6:c.87G>T	NP_001458.1:p.Lys29Asn
NM_001164277.2:c.87G>T MANE Select	NP_001157749.1:p.Lys29Asn