Canonical Allele Identifier: CA349987411

Gene: SLC40A1

Linked Data

• dbSNP Id: rs957670105
• gnomAD v4: 2-189563728-G-A
• MyVariant Identifiers: chr2:g.190428454G>A (hg19) ; chr2:g.189563728G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189563728G>A , CM000664.2:g.189563728G>A	GRCh38
NC_000002.11:g.190428454G>A , CM000664.1:g.190428454G>A	GRCh37
NC_000002.10:g.190136699G>A	NCBI36
NG_009027.1:g.22084C>T , LRG_837:g.22084C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261024.7:c.1258C>T MANE Select	ENSP00000261024.3:p.Pro420Ser
ENST00000261024.6:c.1258C>T	ENSP00000261024.2:p.Pro420Ser
NM_014585.5:c.1258C>T , LRG_837t1:c.1258C>T	NP_055400.1:p.Pro420Ser
XM_005246505.1:c.1138C>T	XP_005246562.1:p.Pro380Ser
XM_005246505.2:c.1138C>T	XP_005246562.1:p.Pro380Ser
XM_017003938.2:c.1138C>T	XP_016859427.1:p.Pro380Ser
NM_014585.6:c.1258C>T MANE Select	NP_055400.1:p.Pro420Ser