Canonical Allele Identifier: CA373282068

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648387G>T (hg19) ; chr9:g.34648390G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648390G>T , CM000671.2:g.34648390G>T	GRCh38
NC_000009.11:g.34648387G>T , CM000671.1:g.34648387G>T	GRCh37
NC_000009.10:g.34638387G>T	NCBI36
NG_009029.1:g.6753G>T
NG_028966.1:g.1206G>T
NG_009029.2:g.6802G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*209G>T	ENSP00000509954.1:n.*209G>T
ENST00000378842.8:c.621G>T MANE Select	ENSP00000368119.4:p.Gln207His
ENST00000378842.7:c.621G>T	ENSP00000368119.3:p.Gln207His
ENST00000450095.6:c.294G>T	ENSP00000401956.2:p.Gln98His
ENST00000472111.5:n.877G>T
ENST00000473506.6:c.*209G>T	ENSP00000432839.2:n.*209G>T
ENST00000473529.5:n.780G>T
ENST00000487381.5:n.1006G>T
ENST00000489643.6:n.396G>T
ENST00000554085.5:c.*365G>T	ENSP00000450419.1:n.*365G>T
ENST00000554550.5:c.*241G>T	ENSP00000451435.1:n.*241G>T
ENST00000554638.5:n.1093G>T
ENST00000555020.5:n.777G>T
ENST00000555086.5:n.625G>T
ENST00000555214.5:n.442G>T
ENST00000556244.1:c.608G>T
ENST00000556278.1:c.366G>T	ENSP00000451792.1:p.Gln122His
ENST00000556494.5:n.742G>T
ENST00000557706.5:n.1183G>T
NM_000155.3:c.621G>T	NP_000146.2:p.Gln207His
NM_001258332.1:c.294G>T	NP_001245261.1:p.Gln98His
NM_000155.4:c.621G>T MANE Select	NP_000146.2:p.Gln207His
NM_001258332.2:c.294G>T	NP_001245261.1:p.Gln98His