Canonical Allele Identifier: CA349988502

Gene: SLC40A1

Linked Data

• gnomAD v4: 2-189565360-G-A
• MyVariant Identifiers: chr2:g.190430086G>A (hg19) ; chr2:g.189565360G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189565360G>A , CM000664.2:g.189565360G>A	GRCh38
NC_000002.11:g.190430086G>A , CM000664.1:g.190430086G>A	GRCh37
NC_000002.10:g.190138331G>A	NCBI36
NG_009027.1:g.20452C>T , LRG_837:g.20452C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261024.7:c.754C>T MANE Select	ENSP00000261024.3:p.His252Tyr
ENST00000261024.6:c.754C>T	ENSP00000261024.2:p.His252Tyr
NM_014585.5:c.754C>T , LRG_837t1:c.754C>T	NP_055400.1:p.His252Tyr
XM_005246505.1:c.634C>T	XP_005246562.1:p.His212Tyr
XM_005246505.2:c.634C>T	XP_005246562.1:p.His212Tyr
XM_017003938.2:c.634C>T	XP_016859427.1:p.His212Tyr
NM_014585.6:c.754C>T MANE Select	NP_055400.1:p.His252Tyr