Canonical Allele Identifier: CA373278816

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34647231T>A (hg19) ; chr9:g.34647234T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647234T>A , CM000671.2:g.34647234T>A	GRCh38
NC_000009.11:g.34647231T>A , CM000671.1:g.34647231T>A	GRCh37
NC_000009.10:g.34637231T>A	NCBI36
NG_009029.1:g.5597T>A
NG_028966.1:g.50T>A
NG_009029.2:g.5646T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.228T>A	ENSP00000509954.1:p.Pro76=
ENST00000378842.8:c.228T>A MANE Select	ENSP00000368119.4:p.Pro76=
ENST00000378842.7:c.228T>A	ENSP00000368119.3:p.Pro76=
ENST00000450095.6:c.26T>A	ENSP00000401956.2:p.Leu9Gln
ENST00000465543.6:n.567T>A
ENST00000468099.2:n.268T>A
ENST00000472111.5:n.269T>A
ENST00000473506.6:c.228T>A	ENSP00000432839.2:p.Pro76=
ENST00000473529.5:n.275T>A
ENST00000485531.1:n.221T>A
ENST00000487381.5:n.254T>A
ENST00000489643.6:n.258T>A
ENST00000554085.5:c.228T>A	ENSP00000450419.1:p.Pro76=
ENST00000554139.5:n.281T>A
ENST00000554330.5:n.225T>A
ENST00000554550.5:c.228T>A	ENSP00000451435.1:p.Pro76=
ENST00000554638.5:n.252T>A
ENST00000554897.5:c.228T>A	ENSP00000450942.1:p.Pro76=
ENST00000554944.5:n.258T>A
ENST00000555020.5:n.258T>A
ENST00000555086.5:n.232T>A
ENST00000555214.5:n.237T>A
ENST00000556157.1:n.335T>A
ENST00000556244.1:c.112T>A
ENST00000556278.1:c.228T>A	ENSP00000451792.1:p.Pro76=
ENST00000556403.5:n.241T>A
ENST00000556494.5:n.260T>A
ENST00000557541.5:n.421T>A
ENST00000557706.5:n.342T>A
NM_000155.3:c.228T>A	NP_000146.2:p.Pro76=
NM_001258332.1:c.26T>A	NP_001245261.1:p.Leu9Gln
NM_000155.4:c.228T>A MANE Select	NP_000146.2:p.Pro76=
NM_001258332.2:c.26T>A	NP_001245261.1:p.Leu9Gln