Canonical Allele Identifier: CA373280378

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34647678A>C (hg19) ; chr9:g.34647681A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647681A>C , CM000671.2:g.34647681A>C	GRCh38
NC_000009.11:g.34647678A>C , CM000671.1:g.34647678A>C	GRCh37
NC_000009.10:g.34637678A>C	NCBI36
NG_009029.1:g.6044A>C
NG_028966.1:g.497A>C
NG_009029.2:g.6093A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.328+114A>C	ENSP00000509954.1:n.328+114A>C
ENST00000378842.8:c.353A>C MANE Select	ENSP00000368119.4:p.Gln118Pro
ENST00000378842.7:c.353A>C	ENSP00000368119.3:p.Gln118Pro
ENST00000450095.6:c.51-151A>C	ENSP00000401956.2:n.51-151A>C
ENST00000465543.6:n.692A>C
ENST00000472111.5:n.483A>C
ENST00000473506.6:c.304A>C	ENSP00000432839.2:p.Lys102Gln
ENST00000473529.5:n.489A>C
ENST00000485531.1:n.668A>C
ENST00000487381.5:n.612A>C
ENST00000489643.6:n.282+423A>C
ENST00000554085.5:c.*97A>C	ENSP00000450419.1:n.*97A>C
ENST00000554139.5:n.406A>C
ENST00000554330.5:n.390A>C
ENST00000554550.5:c.253-151A>C	ENSP00000451435.1:n.253-151A>C
ENST00000554638.5:n.699A>C
ENST00000554897.5:c.253-151A>C	ENSP00000450942.1:n.253-151A>C
ENST00000554944.5:n.423A>C
ENST00000555020.5:n.383A>C
ENST00000555086.5:n.357A>C
ENST00000555214.5:n.262-367A>C
ENST00000556157.1:n.477A>C
ENST00000556244.1:c.340A>C
ENST00000556278.1:c.252+423A>C	ENSP00000451792.1:n.252+423A>C
ENST00000556403.5:n.455A>C
ENST00000556494.5:n.474A>C
ENST00000557541.5:n.497A>C
ENST00000557706.5:n.789A>C
NM_000155.3:c.353A>C	NP_000146.2:p.Gln118Pro
NM_001258332.1:c.51-151A>C	NP_001245261.1:n.51-151A>C
NM_000155.4:c.353A>C MANE Select	NP_000146.2:p.Gln118Pro
NM_001258332.2:c.51-151A>C	NP_001245261.1:n.51-151A>C