Canonical Allele Identifier: CA373281981

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648365A>C (hg19) ; chr9:g.34648368A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648368A>C , CM000671.2:g.34648368A>C	GRCh38
NC_000009.11:g.34648365A>C , CM000671.1:g.34648365A>C	GRCh37
NC_000009.10:g.34638365A>C	NCBI36
NG_009029.1:g.6731A>C
NG_028966.1:g.1184A>C
NG_009029.2:g.6780A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*187A>C	ENSP00000509954.1:n.*187A>C
ENST00000378842.8:c.599A>C MANE Select	ENSP00000368119.4:p.Gln200Pro
ENST00000378842.7:c.599A>C	ENSP00000368119.3:p.Gln200Pro
ENST00000450095.6:c.272A>C	ENSP00000401956.2:p.Gln91Pro
ENST00000472111.5:n.855A>C
ENST00000473506.6:c.*187A>C	ENSP00000432839.2:n.*187A>C
ENST00000473529.5:n.758A>C
ENST00000485531.1:n.1193A>C
ENST00000487381.5:n.984A>C
ENST00000489643.6:n.374A>C
ENST00000554085.5:c.*343A>C	ENSP00000450419.1:n.*343A>C
ENST00000554139.5:n.845A>C
ENST00000554550.5:c.*219A>C	ENSP00000451435.1:n.*219A>C
ENST00000554638.5:n.1071A>C
ENST00000554897.5:c.*286A>C	ENSP00000450942.1:n.*286A>C
ENST00000554944.5:n.948A>C
ENST00000555020.5:n.755A>C
ENST00000555086.5:n.603A>C
ENST00000555214.5:n.420A>C
ENST00000556244.1:c.586A>C
ENST00000556278.1:c.344A>C	ENSP00000451792.1:p.Gln115Pro
ENST00000556494.5:n.720A>C
ENST00000557706.5:n.1161A>C
NM_000155.3:c.599A>C	NP_000146.2:p.Gln200Pro
NM_001258332.1:c.272A>C	NP_001245261.1:p.Gln91Pro
NM_000155.4:c.599A>C MANE Select	NP_000146.2:p.Gln200Pro
NM_001258332.2:c.272A>C	NP_001245261.1:p.Gln91Pro