Canonical Allele Identifier: CA1315650379
Gene: SLC40A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189571759T= , CM000664.2:g.189571759T= GRCh38
NC_000002.11:g.190436485T= , CM000664.1:g.190436485T= GRCh37
NC_000002.10:g.190144730T= NCBI36
NG_009027.1:g.14053A= , LRG_837:g.14053A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.470A= MANE Select ENSP00000261024.3:p.Asp157=
ENST00000261024.6:c.470A= ENSP00000261024.2:p.Asp157=
ENST00000427241.5:c.470A= ENSP00000390005.1:p.Asp157=
NM_014585.5:c.470A= , LRG_837t1:c.470A= NP_055400.1:p.Asp157=
XM_005246505.1:c.350A= XP_005246562.1:p.Asp117=
XM_005246505.2:c.350A= XP_005246562.1:p.Asp117=
XM_017003938.2:c.350A= XP_016859427.1:p.Asp117=
NM_014585.6:c.470A= MANE Select NP_055400.1:p.Asp157=