Canonical Allele Identifier: CA373281973

Gene: GALT

Linked Data

• dbSNP Id: rs1821163729
• MyVariant Identifiers: chr9:g.34648362C>T (hg19) ; chr9:g.34648365C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648365C>T , CM000671.2:g.34648365C>T	GRCh38
NC_000009.11:g.34648362C>T , CM000671.1:g.34648362C>T	GRCh37
NC_000009.10:g.34638362C>T	NCBI36
NG_009029.1:g.6728C>T
NG_028966.1:g.1181C>T
NG_009029.2:g.6777C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*184C>T	ENSP00000509954.1:n.*184C>T
ENST00000378842.8:c.596C>T MANE Select	ENSP00000368119.4:p.Ala199Val
ENST00000378842.7:c.596C>T	ENSP00000368119.3:p.Ala199Val
ENST00000450095.6:c.269C>T	ENSP00000401956.2:p.Ala90Val
ENST00000472111.5:n.852C>T
ENST00000473506.6:c.*184C>T	ENSP00000432839.2:n.*184C>T
ENST00000473529.5:n.755C>T
ENST00000485531.1:n.1190C>T
ENST00000487381.5:n.981C>T
ENST00000489643.6:n.371C>T
ENST00000554085.5:c.*340C>T	ENSP00000450419.1:n.*340C>T
ENST00000554139.5:n.842C>T
ENST00000554550.5:c.*216C>T	ENSP00000451435.1:n.*216C>T
ENST00000554638.5:n.1068C>T
ENST00000554897.5:c.*283C>T	ENSP00000450942.1:n.*283C>T
ENST00000554944.5:n.945C>T
ENST00000555020.5:n.752C>T
ENST00000555086.5:n.600C>T
ENST00000555214.5:n.417C>T
ENST00000556244.1:c.583C>T
ENST00000556278.1:c.341C>T	ENSP00000451792.1:p.Ala114Val
ENST00000556494.5:n.717C>T
ENST00000557706.5:n.1158C>T
NM_000155.3:c.596C>T	NP_000146.2:p.Ala199Val
NM_001258332.1:c.269C>T	NP_001245261.1:p.Ala90Val
NM_000155.4:c.596C>T MANE Select	NP_000146.2:p.Ala199Val
NM_001258332.2:c.269C>T	NP_001245261.1:p.Ala90Val