Canonical Allele Identifier: CA5036082

Gene: GALT

Linked Data

• dbSNP Id: rs763134785
• ExAC: 9:34647558 A / T
• gnomAD v2: 9-34647558-A-T
• gnomAD v4: 9-34647561-A-T
• MyVariant Identifiers: chr9:g.34647558A>T (hg19) ; chr9:g.34647561A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647561A>T , CM000671.2:g.34647561A>T	GRCh38
NC_000009.11:g.34647558A>T , CM000671.1:g.34647558A>T	GRCh37
NC_000009.10:g.34637558A>T	NCBI36
NG_009029.1:g.5924A>T
NG_028966.1:g.377A>T
NG_009029.2:g.5973A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.322A>T	ENSP00000509954.1:p.Ser108Cys
ENST00000378842.8:c.322A>T MANE Select	ENSP00000368119.4:p.Ser108Cys
ENST00000378842.7:c.322A>T	ENSP00000368119.3:p.Ser108Cys
ENST00000450095.6:c.51-271A>T	ENSP00000401956.2:n.51-271A>T
ENST00000465543.6:n.661A>T
ENST00000472111.5:n.363A>T
ENST00000473506.6:c.273A>T	ENSP00000432839.2:p.Pro91=
ENST00000473529.5:n.369A>T
ENST00000485531.1:n.548A>T
ENST00000487381.5:n.581A>T
ENST00000489643.6:n.282+303A>T
ENST00000554085.5:c.*66A>T	ENSP00000450419.1:n.*66A>T
ENST00000554139.5:n.375A>T
ENST00000554330.5:n.270A>T
ENST00000554550.5:c.253-271A>T	ENSP00000451435.1:n.253-271A>T
ENST00000554638.5:n.579A>T
ENST00000554897.5:c.253-271A>T	ENSP00000450942.1:n.253-271A>T
ENST00000554944.5:n.303A>T
ENST00000555020.5:n.352A>T
ENST00000555086.5:n.326A>T
ENST00000555214.5:n.261+303A>T
ENST00000556157.1:n.446A>T
ENST00000556244.1:c.309A>T
ENST00000556278.1:c.252+303A>T	ENSP00000451792.1:n.252+303A>T
ENST00000556403.5:n.335A>T
ENST00000556494.5:n.354A>T
ENST00000557541.5:n.466A>T
ENST00000557706.5:n.669A>T
NM_000155.3:c.322A>T	NP_000146.2:p.Ser108Cys
NM_001258332.1:c.51-271A>T	NP_001245261.1:n.51-271A>T
NM_000155.4:c.322A>T MANE Select	NP_000146.2:p.Ser108Cys
NM_001258332.2:c.51-271A>T	NP_001245261.1:n.51-271A>T