Canonical Allele Identifier: CA413035605
Community Standard Title: NM_001257291.2(SLC9A7):c.1252C>T (p.His418Tyr)
Gene: SLC9A7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.46651208G>A , CM000685.2:g.46651208G>A GRCh38
NC_000023.10:g.46510643G>A , CM000685.1:g.46510643G>A GRCh37
NC_000023.9:g.46395587G>A NCBI36
NG_012622.2:g.112830C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001257291.2:c.1252C>T MANE Select NP_001244220.1:p.His418Tyr
ENST00000616978.5:c.1252C>T MANE Select ENSP00000480916.1:p.His418Tyr
NM_001257291.1:c.1252C>T NP_001244220.1:p.His418Tyr
NM_032591.2:c.1249C>T NP_115980.1:p.His417Tyr
NM_032591.3:c.1249C>T NP_115980.1:p.His417Tyr
ENST00000328306.4:c.1249C>T ENSP00000330320.4:p.His417Tyr
ENST00000489574.2:n.80+18399C>T
ENST00000616978.4:c.1252C>T ENSP00000480916.1:p.His418Tyr
XM_005272681.3:c.1252C>T XP_005272738.1:p.His418Tyr
XM_005272681.4:c.1252C>T XP_005272738.1:p.His418Tyr
XM_005272682.3:c.1252C>T XP_005272739.1:p.His418Tyr
XM_005272682.4:c.1252C>T XP_005272739.1:p.His418Tyr
XM_006724564.2:c.1252C>T XP_006724627.1:p.His418Tyr
XM_006724564.4:c.1252C>T XP_006724627.1:p.His418Tyr
XM_011543990.1:c.1252C>T XP_011542292.1:p.His418Tyr
XM_011543990.2:c.1252C>T XP_011542292.1:p.His418Tyr
XM_011543991.1:c.1252C>T XP_011542293.1:p.His418Tyr
XM_011543992.1:c.1252C>T XP_011542294.1:p.His418Tyr
XM_017029905.1:c.1252C>T XP_016885394.1:p.His418Tyr
XM_017029906.2:c.1252C>T XP_016885395.1:p.His418Tyr
XR_002958808.1:n.1385C>T