Canonical Allele Identifier: CA382897115

Gene: SLC37A4

Linked Data

• MyVariant Identifiers: chr11:g.118896681G>A (hg19) ; chr11:g.119025971G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119025971G>A , CM000673.2:g.119025971G>A	GRCh38
NC_000011.9:g.118896681G>A , CM000673.1:g.118896681G>A	GRCh37
NC_000011.8:g.118401891G>A	NCBI36
NG_013331.1:g.9935C>T , LRG_187:g.9935C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000529510.6:n.1124C>T
ENST00000697845.1:n.1904C>T
ENST00000697846.1:n.1124C>T
ENST00000697847.1:n.1202-214C>T
ENST00000697848.1:n.1210C>T
ENST00000697849.1:n.3019C>T
ENST00000697850.1:n.1210C>T
ENST00000697851.1:n.2818C>T
ENST00000638186.1:n.1284C>T
ENST00000638360.1:n.1116C>T
ENST00000638925.1:n.1249C>T
ENST00000650539.1:n.1386C>T
ENST00000330775.9:c.980C>T	ENSP00000476242.2:p.Pro327Leu
ENST00000357590.9:c.980C>T	ENSP00000476176.2:p.Pro327Leu
ENST00000524428.5:n.1216C>T
ENST00000525039.5:n.1404C>T
ENST00000525102.5:n.1738C>T
ENST00000525372.5:n.1078C>T
ENST00000526275.5:n.1762C>T
ENST00000527992.5:n.1208C>T
ENST00000529510.5:n.668C>T
ENST00000530407.5:n.1130C>T
ENST00000532085.1:n.4361C>T
ENST00000538950.5:c.761C>T	ENSP00000475991.2:p.Pro254Leu
ENST00000545985.5:c.980C>T	ENSP00000475241.2:p.Pro327Leu
NM_001164277.1:c.980C>T , LRG_187t1:c.980C>T	NP_001157749.1:p.Pro327Leu
NM_001164278.1:c.980C>T	NP_001157750.1:p.Pro327Leu
NM_001164279.1:c.761C>T	NP_001157751.1:p.Pro254Leu
NM_001164280.1:c.980C>T	NP_001157752.1:p.Pro327Leu
NM_001467.5:c.980C>T	NP_001458.1:p.Pro327Leu
NM_001164278.2:c.980C>T	NP_001157750.1:p.Pro327Leu
NM_001164279.2:c.761C>T	NP_001157751.1:p.Pro254Leu
NM_001164280.2:c.980C>T	NP_001157752.1:p.Pro327Leu
NM_001467.6:c.980C>T	NP_001458.1:p.Pro327Leu
NM_001164277.2:c.980C>T MANE Select	NP_001157749.1:p.Pro327Leu