Canonical Allele Identifier: CA271572135
Community Standard Title: NM_004727.3(SLC24A1):c.2794-11C>A
Gene: SLC24A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65651659C>A , CM000677.2:g.65651659C>A GRCh38
NC_000015.9:g.65943997C>A , CM000677.1:g.65943997C>A GRCh37
NC_000015.8:g.63731051C>A NCBI36
NG_031968.1:g.34728C>A
NG_031968.2:g.45255C>A

Transcript Alleles

HGVS Amino-acid Change
NM_004727.3:c.2794-11C>A MANE Select NP_004718.1:n.2794-11C>A
ENST00000261892.11:c.2794-11C>A MANE Select ENSP00000261892.6:n.2794-11C>A
NM_001254740.1:c.775-11C>A NP_001241669.1:n.775-11C>A
NM_001254740.2:c.775-11C>A NP_001241669.1:n.775-11C>A
NM_001301031.1:c.2793+717C>A NP_001287960.1:n.2793+717C>A
NM_001301032.1:c.2740-11C>A NP_001287961.1:n.2740-11C>A
NM_001301033.1:c.2740-11C>A NP_001287962.1:n.2740-11C>A
NM_001301033.2:c.2740-11C>A NP_001287962.1:n.2740-11C>A
NM_004727.2:c.2794-11C>A NP_004718.1:n.2794-11C>A
ENST00000261892.10:c.2794-11C>A ENSP00000261892.6:n.2794-11C>A
ENST00000339868.10:c.2793+717C>A ENSP00000341837.7:n.2793+717C>A
ENST00000399033.8:c.2793+717C>A ENSP00000381991.4:n.2793+717C>A
ENST00000434116.6:n.4215-11C>A
ENST00000449142.2:n.843-11C>A
ENST00000537259.5:c.2740-11C>A ENSP00000439693.1:n.2740-11C>A
ENST00000544319.6:c.2452-11C>A ENSP00000445163.1:n.2452-11C>A
ENST00000546330.1:c.2740-11C>A ENSP00000439190.1:n.2740-11C>A
XM_005254778.3:c.2794-11C>A XP_005254835.1:n.2794-11C>A
XM_005254778.4:c.2794-11C>A XP_005254835.1:n.2794-11C>A
XM_006720764.2:c.2794-11C>A XP_006720827.1:n.2794-11C>A
XM_006720767.2:c.2794-11C>A XP_006720830.1:n.2794-11C>A
XM_006720768.2:c.2452-11C>A XP_006720831.1:n.2452-11C>A
XM_006720768.4:c.2452-11C>A XP_006720831.1:n.2452-11C>A
XM_006720769.2:c.2793+717C>A XP_006720832.1:n.2793+717C>A
XM_011522219.1:c.2794-11C>A XP_011520521.1:n.2794-11C>A
XM_011522220.1:c.2740-11C>A XP_011520522.1:n.2740-11C>A
XM_011522220.3:c.2740-11C>A XP_011520522.1:n.2740-11C>A
XM_011522221.1:c.2793+717C>A XP_011520523.1:n.2793+717C>A
XM_011522221.3:c.2793+717C>A XP_011520523.1:n.2793+717C>A
XM_011522222.1:c.2794-11C>A XP_011520524.1:n.2794-11C>A
XM_011522222.3:c.2794-11C>A XP_011520524.1:n.2794-11C>A
XM_011522223.1:c.2740-11C>A XP_011520525.1:n.2740-11C>A
XM_011522225.1:c.2793+717C>A XP_011520527.1:n.2793+717C>A
XM_017022724.2:c.2794-11C>A XP_016878213.1:n.2794-11C>A
XM_017022725.2:c.2793+717C>A XP_016878214.1:n.2793+717C>A
XM_024450103.1:c.2794-11C>A XP_024305871.1:n.2794-11C>A
XM_024450104.1:c.2794-11C>A XP_024305872.1:n.2794-11C>A
XM_024450105.1:c.2794-11C>A XP_024305873.1:n.2794-11C>A
XM_024450106.1:c.2740-11C>A XP_024305874.1:n.2740-11C>A