Canonical Allele Identifier: CA487364885

Gene: GALC

Linked Data

• dbSNP Id: rs1389188299
• gnomAD v2: 14-88431853-T-A
• MyVariant Identifiers: chr14:g.88431853T>A (hg19) ; chr14:g.87965509T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87965509T>A , CM000676.2:g.87965509T>A	GRCh38
NC_000014.8:g.88431853T>A , CM000676.1:g.88431853T>A	GRCh37
NC_000014.7:g.87501606T>A	NCBI36
NG_011853.2:g.33055A>T
NG_011853.3:g.33055A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1029A>T MANE Select	ENSP00000261304.2:p.Val343=
ENST00000261304.6:c.1029A>T	ENSP00000261304.2:p.Val343=
ENST00000393568.8:c.960A>T	ENSP00000377198.4:p.Val320=
ENST00000393569.6:c.951A>T	ENSP00000377199.2:p.Val317=
ENST00000474294.6:n.1019A>T
ENST00000544807.6:c.861A>T	ENSP00000437513.2:p.Val287=
ENST00000555000.5:c.396A>T	ENSP00000450472.1:p.Val132=
ENST00000557316.5:c.*427A>T	ENSP00000452314.1:n.*427A>T
ENST00000557520.1:n.115A>T
ENST00000622264.4:c.1019A>T
NM_000153.3:c.1029A>T	NP_000144.2:p.Val343=
NM_001201401.1:c.960A>T	NP_001188330.1:p.Val320=
NM_001201402.1:c.951A>T	NP_001188331.1:p.Val317=
XM_011536618.1:c.861A>T	XP_011534920.1:p.Val287=
XM_011536618.2:c.861A>T	XP_011534920.1:p.Val287=
NM_000153.4:c.1029A>T MANE Select	NP_000144.2:p.Val343=
NM_001201401.2:c.960A>T	NP_001188330.1:p.Val320=
NM_001201402.2:c.951A>T	NP_001188331.1:p.Val317=