Canonical Allele Identifier: CA373281806

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648335G>T (hg19) ; chr9:g.34648338G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648338G>T , CM000671.2:g.34648338G>T	GRCh38
NC_000009.11:g.34648335G>T , CM000671.1:g.34648335G>T	GRCh37
NC_000009.10:g.34638335G>T	NCBI36
NG_009029.1:g.6701G>T
NG_028966.1:g.1154G>T
NG_009029.2:g.6750G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*157G>T	ENSP00000509954.1:n.*157G>T
ENST00000378842.8:c.569G>T MANE Select	ENSP00000368119.4:p.Trp190Leu
ENST00000378842.7:c.569G>T	ENSP00000368119.3:p.Trp190Leu
ENST00000450095.6:c.242G>T	ENSP00000401956.2:p.Trp81Leu
ENST00000472111.5:n.825G>T
ENST00000473506.6:c.*157G>T	ENSP00000432839.2:n.*157G>T
ENST00000473529.5:n.728G>T
ENST00000485531.1:n.1163G>T
ENST00000487381.5:n.954G>T
ENST00000489643.6:n.344G>T
ENST00000554085.5:c.*313G>T	ENSP00000450419.1:n.*313G>T
ENST00000554139.5:n.815G>T
ENST00000554550.5:c.*189G>T	ENSP00000451435.1:n.*189G>T
ENST00000554638.5:n.1041G>T
ENST00000554897.5:c.*256G>T	ENSP00000450942.1:n.*256G>T
ENST00000554944.5:n.918G>T
ENST00000555020.5:n.725G>T
ENST00000555086.5:n.573G>T
ENST00000555214.5:n.390G>T
ENST00000556244.1:c.556G>T
ENST00000556278.1:c.314G>T	ENSP00000451792.1:p.Trp105Leu
ENST00000556494.5:n.690G>T
ENST00000557706.5:n.1131G>T
NM_000155.3:c.569G>T	NP_000146.2:p.Trp190Leu
NM_001258332.1:c.242G>T	NP_001245261.1:p.Trp81Leu
NM_000155.4:c.569G>T MANE Select	NP_000146.2:p.Trp190Leu
NM_001258332.2:c.242G>T	NP_001245261.1:p.Trp81Leu