Canonical Allele Identifier: CA16041705

Gene: GALC

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87986516T>A , CM000676.2:g.87986516T>A	GRCh38
NC_000014.8:g.88452860T>A , CM000676.1:g.88452860T>A	GRCh37
NC_000014.7:g.87522613T>A	NCBI36
NG_011853.2:g.12048A>T
NG_011853.3:g.12048A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.415A>T MANE Select	ENSP00000261304.2:p.Lys139Ter
ENST00000261304.6:c.415A>T	ENSP00000261304.2:p.Lys139Ter
ENST00000393568.8:c.346A>T	ENSP00000377198.4:p.Lys116Ter
ENST00000393569.6:c.337A>T	ENSP00000377199.2:p.Lys113Ter
ENST00000474294.6:n.405A>T
ENST00000544807.6:c.247A>T	ENSP00000437513.2:p.Lys83Ter
ENST00000554372.5:c.*164A>T	ENSP00000451884.1:n.*164A>T
ENST00000554916.5:n.294A>T
ENST00000556261.5:n.116A>T
ENST00000556879.5:c.475A>T	ENSP00000452208.1:n.475A>T
ENST00000557316.5:c.415A>T	ENSP00000452314.1:p.Lys139Ter
ENST00000622264.4:c.405A>T
NM_000153.3:c.415A>T	NP_000144.2:p.Lys139Ter
NM_001201401.1:c.346A>T	NP_001188330.1:p.Lys116Ter
NM_001201402.1:c.337A>T	NP_001188331.1:p.Lys113Ter
XM_011536618.1:c.247A>T	XP_011534920.1:p.Lys83Ter
XM_011536618.2:c.247A>T	XP_011534920.1:p.Lys83Ter
NM_000153.4:c.415A>T MANE Select	NP_000144.2:p.Lys139Ter
NM_001201401.2:c.346A>T	NP_001188330.1:p.Lys116Ter
NM_001201402.2:c.337A>T	NP_001188331.1:p.Lys113Ter