Canonical Allele Identifier: CA390749302

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88442718C>A (hg19) ; chr14:g.87976374C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976374C>A , CM000676.2:g.87976374C>A	GRCh38
NC_000014.8:g.88442718C>A , CM000676.1:g.88442718C>A	GRCh37
NC_000014.7:g.87512471C>A	NCBI36
NG_011853.2:g.22190G>T
NG_011853.3:g.22190G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.736G>T MANE Select	ENSP00000261304.2:p.Val246Leu
ENST00000261304.6:c.736G>T	ENSP00000261304.2:p.Val246Leu
ENST00000393568.8:c.667G>T	ENSP00000377198.4:p.Val223Leu
ENST00000393569.6:c.658G>T	ENSP00000377199.2:p.Val220Leu
ENST00000474294.6:n.726G>T
ENST00000477716.3:n.491G>T
ENST00000544807.6:c.568G>T	ENSP00000437513.2:p.Val190Leu
ENST00000554916.5:n.615G>T
ENST00000555000.5:c.103G>T	ENSP00000450472.1:p.Val35Leu
ENST00000557316.5:c.*134G>T	ENSP00000452314.1:n.*134G>T
ENST00000622264.4:c.726G>T
NM_000153.3:c.736G>T	NP_000144.2:p.Val246Leu
NM_001201401.1:c.667G>T	NP_001188330.1:p.Val223Leu
NM_001201402.1:c.658G>T	NP_001188331.1:p.Val220Leu
XM_011536618.1:c.568G>T	XP_011534920.1:p.Val190Leu
XM_011536618.2:c.568G>T	XP_011534920.1:p.Val190Leu
NM_000153.4:c.736G>T MANE Select	NP_000144.2:p.Val246Leu
NM_001201401.2:c.667G>T	NP_001188330.1:p.Val223Leu
NM_001201402.2:c.658G>T	NP_001188331.1:p.Val220Leu