Canonical Allele Identifier: CA382898139

Gene: SLC37A4

Linked Data

• MyVariant Identifiers: chr11:g.118896778T>G (hg19) ; chr11:g.119026068T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119026068T>G , CM000673.2:g.119026068T>G	GRCh38
NC_000011.9:g.118896778T>G , CM000673.1:g.118896778T>G	GRCh37
NC_000011.8:g.118401988T>G	NCBI36
NG_013331.1:g.9838A>C , LRG_187:g.9838A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.1027A>C
ENST00000697845.1:n.1807A>C
ENST00000697846.1:n.1027A>C
ENST00000697847.1:n.1202-311A>C
ENST00000697848.1:n.1113A>C
ENST00000697849.1:n.2922A>C
ENST00000697850.1:n.1113A>C
ENST00000697851.1:n.2721A>C
ENST00000638186.1:n.1187A>C
ENST00000638360.1:n.1019A>C
ENST00000638925.1:n.1152A>C
ENST00000650539.1:n.1289A>C
ENST00000330775.9:c.883A>C	ENSP00000476242.2:p.Asn295His
ENST00000357590.9:c.883A>C	ENSP00000476176.2:p.Asn295His
ENST00000524428.5:n.1119A>C
ENST00000525039.5:n.1307A>C
ENST00000525102.5:n.1641A>C
ENST00000525372.5:n.981A>C
ENST00000526275.5:n.1665A>C
ENST00000527992.5:n.1111A>C
ENST00000529510.5:n.571A>C
ENST00000530407.5:n.1033A>C
ENST00000532085.1:n.4264A>C
ENST00000538950.5:c.664A>C	ENSP00000475991.2:p.Asn222His
ENST00000545985.5:c.883A>C	ENSP00000475241.2:p.Asn295His
NM_001164277.1:c.883A>C , LRG_187t1:c.883A>C	NP_001157749.1:p.Asn295His
NM_001164278.1:c.883A>C	NP_001157750.1:p.Asn295His
NM_001164279.1:c.664A>C	NP_001157751.1:p.Asn222His
NM_001164280.1:c.883A>C	NP_001157752.1:p.Asn295His
NM_001467.5:c.883A>C	NP_001458.1:p.Asn295His
NM_001164278.2:c.883A>C	NP_001157750.1:p.Asn295His
NM_001164279.2:c.664A>C	NP_001157751.1:p.Asn222His
NM_001164280.2:c.883A>C	NP_001157752.1:p.Asn295His
NM_001467.6:c.883A>C	NP_001458.1:p.Asn295His
NM_001164277.2:c.883A>C MANE Select	NP_001157749.1:p.Asn295His