Canonical Allele Identifier: CA373282147

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648401A>T (hg19) ; chr9:g.34648404A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648404A>T , CM000671.2:g.34648404A>T	GRCh38
NC_000009.11:g.34648401A>T , CM000671.1:g.34648401A>T	GRCh37
NC_000009.10:g.34638401A>T	NCBI36
NG_009029.1:g.6767A>T
NG_028966.1:g.1220A>T
NG_009029.2:g.6816A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*223A>T	ENSP00000509954.1:n.*223A>T
ENST00000378842.8:c.635A>T MANE Select	ENSP00000368119.4:p.Gln212Leu
ENST00000378842.7:c.635A>T	ENSP00000368119.3:p.Gln212Leu
ENST00000450095.6:c.308A>T	ENSP00000401956.2:p.Gln103Leu
ENST00000472111.5:n.891A>T
ENST00000473506.6:c.*223A>T	ENSP00000432839.2:n.*223A>T
ENST00000473529.5:n.794A>T
ENST00000487381.5:n.1020A>T
ENST00000489643.6:n.410A>T
ENST00000554085.5:c.*379A>T	ENSP00000450419.1:n.*379A>T
ENST00000554550.5:c.*255A>T	ENSP00000451435.1:n.*255A>T
ENST00000554638.5:n.1107A>T
ENST00000555020.5:n.791A>T
ENST00000555086.5:n.639A>T
ENST00000555214.5:n.456A>T
ENST00000556244.1:c.622A>T
ENST00000556278.1:c.380A>T	ENSP00000451792.1:p.Gln127Leu
ENST00000556494.5:n.756A>T
ENST00000557706.5:n.1197A>T
NM_000155.3:c.635A>T	NP_000146.2:p.Gln212Leu
NM_001258332.1:c.308A>T	NP_001245261.1:p.Gln103Leu
NM_000155.4:c.635A>T MANE Select	NP_000146.2:p.Gln212Leu
NM_001258332.2:c.308A>T	NP_001245261.1:p.Gln103Leu