Canonical Allele Identifier: CA62902893

Gene: SLC40A1

Linked Data

• dbSNP Id: rs928767214
• gnomAD v4: 2-189563845-G-T
• MyVariant Identifiers: chr2:g.190428571G>T (hg19) ; chr2:g.189563845G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189563845G>T , CM000664.2:g.189563845G>T	GRCh38
NC_000002.11:g.190428571G>T , CM000664.1:g.190428571G>T	GRCh37
NC_000002.10:g.190136816G>T	NCBI36
NG_009027.1:g.21967C>A , LRG_837:g.21967C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261024.7:c.1141C>A MANE Select	ENSP00000261024.3:p.Leu381Ile
ENST00000261024.6:c.1141C>A	ENSP00000261024.2:p.Leu381Ile
NM_014585.5:c.1141C>A , LRG_837t1:c.1141C>A	NP_055400.1:p.Leu381Ile
XM_005246505.1:c.1021C>A	XP_005246562.1:p.Leu341Ile
XM_005246505.2:c.1021C>A	XP_005246562.1:p.Leu341Ile
XM_017003938.2:c.1021C>A	XP_016859427.1:p.Leu341Ile
NM_014585.6:c.1141C>A MANE Select	NP_055400.1:p.Leu381Ile