Canonical Allele Identifier: CA390745085

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88401087C>G (hg19) ; chr14:g.87934743C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87934743C>G , CM000676.2:g.87934743C>G	GRCh38
NC_000014.8:g.88401087C>G , CM000676.1:g.88401087C>G	GRCh37
NC_000014.7:g.87470840C>G	NCBI36
NG_011853.2:g.63821G>C
NG_011853.3:g.63821G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.2047G>C MANE Select	ENSP00000261304.2:p.Ala683Pro
ENST00000261304.6:c.2047G>C	ENSP00000261304.2:p.Ala683Pro
ENST00000393568.8:c.1978G>C	ENSP00000377198.4:p.Ala660Pro
ENST00000393569.6:c.1969G>C	ENSP00000377199.2:p.Ala657Pro
ENST00000544807.6:c.1744-744G>C	ENSP00000437513.2:n.1744-744G>C
ENST00000555000.5:c.1279-744G>C	ENSP00000450472.1:n.1279-744G>C
NM_000153.3:c.2047G>C	NP_000144.2:p.Ala683Pro
NM_001201401.1:c.1978G>C	NP_001188330.1:p.Ala660Pro
NM_001201402.1:c.1969G>C	NP_001188331.1:p.Ala657Pro
XM_011536618.1:c.1879G>C	XP_011534920.1:p.Ala627Pro
XM_011536618.2:c.1879G>C	XP_011534920.1:p.Ala627Pro
NM_000153.4:c.2047G>C MANE Select	NP_000144.2:p.Ala683Pro
NM_001201401.2:c.1978G>C	NP_001188330.1:p.Ala660Pro
NM_001201402.2:c.1969G>C	NP_001188331.1:p.Ala657Pro