Canonical Allele Identifier: CA349988251
Gene: SLC40A1 HGNC NCBI

Linked Data

gnomAD v4: 2-189564124-T-G
MyVariant Identifiers: chr2:g.190428850T>G (hg19) chr2:g.189564124T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189564124T>G , CM000664.2:g.189564124T>G GRCh38
NC_000002.11:g.190428850T>G , CM000664.1:g.190428850T>G GRCh37
NC_000002.10:g.190137095T>G NCBI36
NG_009027.1:g.21688A>C , LRG_837:g.21688A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.862A>C MANE Select ENSP00000261024.3:p.Met288Leu
ENST00000261024.6:c.862A>C ENSP00000261024.2:p.Met288Leu
NM_014585.5:c.862A>C , LRG_837t1:c.862A>C NP_055400.1:p.Met288Leu
XM_005246505.1:c.742A>C XP_005246562.1:p.Met248Leu
XM_005246505.2:c.742A>C XP_005246562.1:p.Met248Leu
XM_017003938.2:c.742A>C XP_016859427.1:p.Met248Leu
NM_014585.6:c.862A>C MANE Select NP_055400.1:p.Met288Leu
Search 100 bp 5'
Search 100 bp 3'