Canonical Allele Identifier: CA430502602
Gene: SLC40A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.190430195G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189565469G>T , CM000664.2:g.189565469G>T GRCh38
NC_000002.11:g.190430195G>T , CM000664.1:g.190430195G>T GRCh37
NC_000002.10:g.190138440G>T NCBI36
NG_009027.1:g.20343C>A , LRG_837:g.20343C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000261024.7:c.645C>A MANE Select ENSP00000261024.3:p.Ser215=
ENST00000261024.6:c.645C>A ENSP00000261024.2:p.Ser215=
NM_014585.5:c.645C>A , LRG_837t1:c.645C>A NP_055400.1:p.Ser215=
XM_005246505.1:c.525C>A XP_005246562.1:p.Ser175=
XM_005246505.2:c.525C>A XP_005246562.1:p.Ser175=
XM_017003938.2:c.525C>A XP_016859427.1:p.Ser175=
NM_014585.6:c.645C>A MANE Select NP_055400.1:p.Ser215=