Canonical Allele Identifier: CA7297286

Gene: GALC

Linked Data

• dbSNP Id: rs747725011
• ExAC: 14:88442832 T / A
• gnomAD v2: 14-88442832-T-A
• gnomAD v3: 14-87976488-T-A
• gnomAD v4: 14-87976488-T-A
• MyVariant Identifiers: chr14:g.88442832T>A (hg19) ; chr14:g.87976488T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976488T>A , CM000676.2:g.87976488T>A	GRCh38
NC_000014.8:g.88442832T>A , CM000676.1:g.88442832T>A	GRCh37
NC_000014.7:g.87512585T>A	NCBI36
NG_011853.2:g.22076A>T
NG_011853.3:g.22076A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.622A>T MANE Select	ENSP00000261304.2:p.Ile208Leu
ENST00000261304.6:c.622A>T	ENSP00000261304.2:p.Ile208Leu
ENST00000393568.8:c.553A>T	ENSP00000377198.4:p.Ile185Leu
ENST00000393569.6:c.544A>T	ENSP00000377199.2:p.Ile182Leu
ENST00000474294.6:n.612A>T
ENST00000477716.3:n.377A>T
ENST00000544807.6:c.454A>T	ENSP00000437513.2:p.Ile152Leu
ENST00000554916.5:n.501A>T
ENST00000555000.5:c.-12A>T	ENSP00000450472.1:n.-12A>T
ENST00000557316.5:c.*20A>T	ENSP00000452314.1:n.*20A>T
ENST00000622264.4:c.612A>T
NM_000153.3:c.622A>T	NP_000144.2:p.Ile208Leu
NM_001201401.1:c.553A>T	NP_001188330.1:p.Ile185Leu
NM_001201402.1:c.544A>T	NP_001188331.1:p.Ile182Leu
XM_011536618.1:c.454A>T	XP_011534920.1:p.Ile152Leu
XM_011536618.2:c.454A>T	XP_011534920.1:p.Ile152Leu
NM_000153.4:c.622A>T MANE Select	NP_000144.2:p.Ile208Leu
NM_001201401.2:c.553A>T	NP_001188330.1:p.Ile185Leu
NM_001201402.2:c.544A>T	NP_001188331.1:p.Ile182Leu