Canonical Allele Identifier: CA373282152

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648402G>T (hg19) ; chr9:g.34648405G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648405G>T , CM000671.2:g.34648405G>T	GRCh38
NC_000009.11:g.34648402G>T , CM000671.1:g.34648402G>T	GRCh37
NC_000009.10:g.34638402G>T	NCBI36
NG_009029.1:g.6768G>T
NG_028966.1:g.1221G>T
NG_009029.2:g.6817G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*224G>T	ENSP00000509954.1:n.*224G>T
ENST00000378842.8:c.636G>T MANE Select	ENSP00000368119.4:p.Gln212His
ENST00000378842.7:c.636G>T	ENSP00000368119.3:p.Gln212His
ENST00000450095.6:c.309G>T	ENSP00000401956.2:p.Gln103His
ENST00000472111.5:n.892G>T
ENST00000473506.6:c.*224G>T	ENSP00000432839.2:n.*224G>T
ENST00000473529.5:n.795G>T
ENST00000487381.5:n.1021G>T
ENST00000489643.6:n.411G>T
ENST00000554085.5:c.*380G>T	ENSP00000450419.1:n.*380G>T
ENST00000554550.5:c.*256G>T	ENSP00000451435.1:n.*256G>T
ENST00000554638.5:n.1108G>T
ENST00000555020.5:n.792G>T
ENST00000555086.5:n.640G>T
ENST00000555214.5:n.457G>T
ENST00000556244.1:c.623G>T
ENST00000556278.1:c.381G>T	ENSP00000451792.1:p.Gln127His
ENST00000556494.5:n.757G>T
ENST00000557706.5:n.1198G>T
NM_000155.3:c.636G>T	NP_000146.2:p.Gln212His
NM_001258332.1:c.309G>T	NP_001245261.1:p.Gln103His
NM_000155.4:c.636G>T MANE Select	NP_000146.2:p.Gln212His
NM_001258332.2:c.309G>T	NP_001245261.1:p.Gln103His