Canonical Allele Identifier: CA452439012
Community Standard Title: NM_001144060.2(NHSL1):c.3186G>A (p.Arg1062=)
Gene: NHSL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.138431159C>T , CM000668.2:g.138431159C>T GRCh38
NC_000006.11:g.138752296C>T , CM000668.1:g.138752296C>T GRCh37
NC_000006.10:g.138793989C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001144060.2:c.3186G>A MANE Select NP_001137532.1:p.Arg1062=
ENST00000343505.10:c.3186G>A MANE Select ENSP00000344672.5:p.Arg1062=
NM_001144060.1:c.3186G>A NP_001137532.1:p.Arg1062=
NM_020464.1:c.3198G>A NP_065197.1:p.Arg1066=
NM_020464.2:c.3198G>A NP_065197.1:p.Arg1066=
ENST00000343505.9:c.3186G>A ENSP00000344672.5:p.Arg1062=
ENST00000427025.6:c.3198G>A ENSP00000394546.2:p.Arg1066=
XM_005267062.3:c.3330G>A XP_005267119.1:p.Arg1110=
XM_005267062.5:c.3330G>A XP_005267119.1:p.Arg1110=
XM_011535965.1:c.3384G>A XP_011534267.1:p.Arg1128=
XM_011535966.1:c.3384G>A XP_011534268.1:p.Arg1128=
XM_011535966.3:c.3384G>A XP_011534268.1:p.Arg1128=
XM_011535967.1:c.3384G>A XP_011534269.1:p.Arg1128=
XM_011535967.3:c.3384G>A XP_011534269.1:p.Arg1128=
XM_011535968.1:c.3252G>A XP_011534270.1:p.Arg1084=
XM_011535968.3:c.3252G>A XP_011534270.1:p.Arg1084=
XM_011535969.1:c.3243G>A XP_011534271.1:p.Arg1081=
XM_011535969.2:c.3243G>A XP_011534271.1:p.Arg1081=
XM_011535970.1:c.3240G>A XP_011534272.1:p.Arg1080=
XM_011535970.2:c.3240G>A XP_011534272.1:p.Arg1080=
XM_011535971.1:c.3222G>A XP_011534273.1:p.Arg1074=
XM_011535971.2:c.3222G>A XP_011534273.1:p.Arg1074=
XM_011535972.1:c.3198G>A XP_011534274.1:p.Arg1066=
XM_011535972.2:c.3198G>A XP_011534274.1:p.Arg1066=
XM_011535973.1:c.3189G>A XP_011534275.1:p.Arg1063=
XM_011535973.3:c.3189G>A XP_011534275.1:p.Arg1063=
XM_011535974.1:c.3189G>A XP_011534276.1:p.Arg1063=
XM_011535974.3:c.3189G>A XP_011534276.1:p.Arg1063=
XM_011535975.1:c.3063G>A XP_011534277.1:p.Arg1021=
XM_011535976.1:c.3012G>A XP_011534278.1:p.Arg1004=
XM_017011086.2:c.3384G>A XP_016866575.1:p.Arg1128=
XM_017011087.1:c.3279G>A XP_016866576.1:p.Arg1093=
XM_017011088.1:c.3234G>A XP_016866577.1:p.Arg1078=
XM_017011089.1:c.3144G>A XP_016866578.1:p.Arg1048=
XM_024446497.1:c.2709G>A XP_024302265.1:p.Arg903=