Canonical Allele Identifier: CA349987644
Gene: SLC40A1 HGNC NCBI

Linked Data

dbSNP Id: rs2030838970
gnomAD v4: 2-189563838-C-G
MyVariant Identifiers: chr2:g.190428564C>G (hg19) chr2:g.189563838C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189563838C>G , CM000664.2:g.189563838C>G GRCh38
NC_000002.11:g.190428564C>G , CM000664.1:g.190428564C>G GRCh37
NC_000002.10:g.190136809C>G NCBI36
NG_009027.1:g.21974G>C , LRG_837:g.21974G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.1148G>C MANE Select ENSP00000261024.3:p.Cys383Ser
ENST00000261024.6:c.1148G>C ENSP00000261024.2:p.Cys383Ser
NM_014585.5:c.1148G>C , LRG_837t1:c.1148G>C NP_055400.1:p.Cys383Ser
XM_005246505.1:c.1028G>C XP_005246562.1:p.Cys343Ser
XM_005246505.2:c.1028G>C XP_005246562.1:p.Cys343Ser
XM_017003938.2:c.1028G>C XP_016859427.1:p.Cys343Ser
NM_014585.6:c.1148G>C MANE Select NP_055400.1:p.Cys383Ser
Search 100 bp 5'
Search 100 bp 3'