Canonical Allele Identifier: CA2024085
Gene: SLC40A1 HGNC NCBI

Linked Data

dbSNP Id: rs754545527
ExAC: 2:190428411 T / C
gnomAD v2: 2-190428411-T-C
gnomAD v4: 2-189563685-T-C
MyVariant Identifiers: chr2:g.190428411T>C (hg19) chr2:g.189563685T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189563685T>C , CM000664.2:g.189563685T>C GRCh38
NC_000002.11:g.190428411T>C , CM000664.1:g.190428411T>C GRCh37
NC_000002.10:g.190136656T>C NCBI36
NG_009027.1:g.22127A>G , LRG_837:g.22127A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.1301A>G MANE Select ENSP00000261024.3:p.Asn434Ser
ENST00000261024.6:c.1301A>G ENSP00000261024.2:p.Asn434Ser
NM_014585.5:c.1301A>G , LRG_837t1:c.1301A>G NP_055400.1:p.Asn434Ser
XM_005246505.1:c.1181A>G XP_005246562.1:p.Asn394Ser
XM_005246505.2:c.1181A>G XP_005246562.1:p.Asn394Ser
XM_017003938.2:c.1181A>G XP_016859427.1:p.Asn394Ser
NM_014585.6:c.1301A>G MANE Select NP_055400.1:p.Asn434Ser
Search 100 bp 5'
Search 100 bp 3'