Canonical Allele Identifier: CA2507376347

Gene: GALC

Linked Data

• gnomAD v4: 14-87976954-G-GAA

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976963_87976964dup , CM000676.2:g.87976963_87976964dup	GRCh38
NC_000014.8:g.88443307_88443308dup , CM000676.1:g.88443307_88443308dup	GRCh37
NC_000014.7:g.87513060_87513061dup	NCBI36
NG_011853.2:g.21608_21609dup
NG_011853.3:g.21608_21609dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.622-468_622-467dup MANE Select	ENSP00000261304.2:n.622-468_622-467dup
ENST00000261304.6:c.622-468_622-467dup	ENSP00000261304.2:n.622-468_622-467dup
ENST00000393568.8:c.553-468_553-467dup	ENSP00000377198.4:n.553-468_553-467dup
ENST00000393569.6:c.544-468_544-467dup	ENSP00000377199.2:n.544-468_544-467dup
ENST00000474294.6:n.612-468_612-467dup
ENST00000544807.6:c.454-468_454-467dup	ENSP00000437513.2:n.454-468_454-467dup
ENST00000554916.5:n.501-468_501-467dup
ENST00000555000.5:c.-12-468_-12-467dup	ENSP00000450472.1:n.-12-468_-12-467dup
ENST00000557316.5:c.*20-468_*20-467dup	ENSP00000452314.1:n.*20-468_*20-467dup
ENST00000622264.4:c.612-468_612-467dup
NM_000153.3:c.622-468_622-467dup	NP_000144.2:n.622-468_622-467dup
NM_001201401.1:c.553-468_553-467dup	NP_001188330.1:n.553-468_553-467dup
NM_001201402.1:c.544-468_544-467dup	NP_001188331.1:n.544-468_544-467dup
XM_011536618.1:c.454-468_454-467dup	XP_011534920.1:n.454-468_454-467dup
XM_011536618.2:c.454-468_454-467dup	XP_011534920.1:n.454-468_454-467dup
NM_000153.4:c.622-468_622-467dup MANE Select	NP_000144.2:n.622-468_622-467dup
NM_001201401.2:c.553-468_553-467dup	NP_001188330.1:n.553-468_553-467dup
NM_001201402.2:c.544-468_544-467dup	NP_001188331.1:n.544-468_544-467dup