Canonical Allele Identifier: CA349988641

Gene: SLC40A1

Linked Data

• gnomAD v4: 2-189565426-T-A
• MyVariant Identifiers: chr2:g.190430152T>A (hg19) ; chr2:g.189565426T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189565426T>A , CM000664.2:g.189565426T>A	GRCh38
NC_000002.11:g.190430152T>A , CM000664.1:g.190430152T>A	GRCh37
NC_000002.10:g.190138397T>A	NCBI36
NG_009027.1:g.20386A>T , LRG_837:g.20386A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261024.7:c.688A>T MANE Select	ENSP00000261024.3:p.Thr230Ser
ENST00000261024.6:c.688A>T	ENSP00000261024.2:p.Thr230Ser
NM_014585.5:c.688A>T , LRG_837t1:c.688A>T	NP_055400.1:p.Thr230Ser
XM_005246505.1:c.568A>T	XP_005246562.1:p.Thr190Ser
XM_005246505.2:c.568A>T	XP_005246562.1:p.Thr190Ser
XM_017003938.2:c.568A>T	XP_016859427.1:p.Thr190Ser
NM_014585.6:c.688A>T MANE Select	NP_055400.1:p.Thr230Ser