Canonical Allele Identifier: CA382896903

Gene: SLC37A4

Linked Data

• gnomAD v4: 11-119025738-A-G
• MyVariant Identifiers: chr11:g.118896448A>G (hg19) ; chr11:g.119025738A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119025738A>G , CM000673.2:g.119025738A>G	GRCh38
NC_000011.9:g.118896448A>G , CM000673.1:g.118896448A>G	GRCh37
NC_000011.8:g.118401658A>G	NCBI36
NG_013331.1:g.10168T>C , LRG_187:g.10168T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.1148T>C
ENST00000697845.1:n.2137T>C
ENST00000697846.1:n.1148T>C
ENST00000697847.1:n.1221T>C
ENST00000697848.1:n.1234T>C
ENST00000697849.1:n.3252T>C
ENST00000697850.1:n.1443T>C
ENST00000697851.1:n.2822+229T>C
ENST00000638186.1:n.1288+229T>C
ENST00000638360.1:n.1120+229T>C
ENST00000638925.1:n.1253+229T>C
ENST00000650539.1:n.1410T>C
ENST00000330775.9:c.984+229T>C	ENSP00000476242.2:n.984+229T>C
ENST00000357590.9:c.1004T>C	ENSP00000476176.2:p.Leu335Pro
ENST00000524428.5:n.1220+229T>C
ENST00000525039.5:n.1428T>C
ENST00000525102.5:n.1742+229T>C
ENST00000525372.5:n.1082+229T>C
ENST00000526275.5:n.1766+229T>C
ENST00000527992.5:n.1212+229T>C
ENST00000529510.5:n.672+229T>C
ENST00000530407.5:n.1134+229T>C
ENST00000532085.1:n.4594T>C
ENST00000538950.5:c.765+229T>C	ENSP00000475991.2:n.765+229T>C
ENST00000545985.5:c.984+229T>C	ENSP00000475241.2:n.984+229T>C
NM_001164277.1:c.984+229T>C , LRG_187t1:c.984+229T>C	NP_001157749.1:n.984+229T>C
NM_001164278.1:c.1004T>C	NP_001157750.1:p.Leu335Pro
NM_001164279.1:c.765+229T>C	NP_001157751.1:n.765+229T>C
NM_001164280.1:c.984+229T>C	NP_001157752.1:n.984+229T>C
NM_001467.5:c.984+229T>C	NP_001458.1:n.984+229T>C
NM_001164278.2:c.1004T>C	NP_001157750.1:p.Leu335Pro
NM_001164279.2:c.765+229T>C	NP_001157751.1:n.765+229T>C
NM_001164280.2:c.984+229T>C	NP_001157752.1:n.984+229T>C
NM_001467.6:c.984+229T>C	NP_001458.1:n.984+229T>C
NM_001164277.2:c.984+229T>C MANE Select	NP_001157749.1:n.984+229T>C