Canonical Allele Identifier: CA494933601
Gene: ARMC5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.31473990G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.31462669G>T , CM000678.2:g.31462669G>T GRCh38
NC_000016.9:g.31473990G>T , CM000678.1:g.31473990G>T GRCh37
NC_000016.8:g.31381491G>T NCBI36
NG_034258.1:g.9397G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000268314.9:c.1122G>T MANE Select ENSP00000268314.4:p.Leu374=
ENST00000268314.8:c.1122G>T ENSP00000268314.4:p.Leu374=
ENST00000408912.7:c.1407G>T ENSP00000386125.3:p.Leu469=
ENST00000457010.6:c.1122G>T ENSP00000399561.2:p.Leu374=
ENST00000538189.5:c.630G>T ENSP00000443995.2:p.Leu210=
ENST00000563544.5:c.1122G>T ENSP00000456877.1:p.Leu374=
ENST00000564900.1:c.213-103G>T
NM_001105247.1:c.1122G>T NP_001098717.1:p.Leu374=
NM_001288767.1:c.1407G>T NP_001275696.1:p.Leu469=
NM_001301820.1:c.1218G>T NP_001288749.1:p.Leu406=
NM_024742.2:c.1122G>T NP_079018.1:p.Leu374=
XM_006721091.1:c.1218G>T XP_006721154.1:p.Leu406=
XM_006721091.3:c.1218G>T XP_006721154.1:p.Leu406=
XM_024450448.1:c.1218G>T XP_024306216.1:p.Leu406=
XM_024450449.1:c.1218G>T XP_024306217.1:p.Leu406=
NM_001105247.2:c.1122G>T MANE Select NP_001098717.1:p.Leu374=
NM_001288767.2:c.1407G>T NP_001275696.1:p.Leu469=