Canonical Allele Identifier: CA45609893

Gene: GALM

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38690021T>C , CM000664.2:g.38690021T>C	GRCh38
NC_000002.11:g.38917163T>C , CM000664.1:g.38917163T>C	GRCh37
NC_000002.10:g.38770667T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_138801.3:c.634+127T>C MANE Select	NP_620156.1:n.634+127T>C
ENST00000272252.10:c.634+127T>C MANE Select	ENSP00000272252.5:n.634+127T>C
NM_138801.2:c.634+127T>C	NP_620156.1:n.634+127T>C
ENST00000272252.9:c.634+127T>C	ENSP00000272252.5:n.634+127T>C
ENST00000410063.5:c.190+23670T>C	ENSP00000386233.1:n.190+23670T>C
ENST00000434934.1:c.274+127T>C	ENSP00000399473.1:n.274+127T>C
ENST00000444351.5:c.553+127T>C	ENSP00000409083.1:n.553+127T>C
XM_011532540.1:c.634+127T>C	XP_011530842.1:n.634+127T>C
XM_011532540.2:c.634+127T>C	XP_011530842.1:n.634+127T>C
XR_244925.1:n.886+127T>C
XR_244925.2:n.874+127T>C