Canonical Allele Identifier: CA1621443

Gene: GALM

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38675965C>T , CM000664.2:g.38675965C>T	GRCh38
NC_000002.11:g.38903107C>T , CM000664.1:g.38903107C>T	GRCh37
NC_000002.10:g.38756611C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_138801.3:c.244C>T MANE Select	NP_620156.1:p.Arg82Ter
ENST00000272252.10:c.244C>T MANE Select	ENSP00000272252.5:p.Arg82Ter
NM_138801.2:c.244C>T	NP_620156.1:p.Arg82Ter
ENST00000272252.9:c.244C>T	ENSP00000272252.5:p.Arg82Ter
ENST00000410063.5:c.190+9614C>T	ENSP00000386233.1:n.190+9614C>T
ENST00000427858.4:n.325C>T
ENST00000444351.5:c.163C>T	ENSP00000409083.1:p.Arg55Ter
XM_011532540.1:c.244C>T	XP_011530842.1:p.Arg82Ter
XM_011532540.2:c.244C>T	XP_011530842.1:p.Arg82Ter
XR_244925.1:n.496C>T
XR_244925.2:n.484C>T