Canonical Allele Identifier: CA373282119

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648396G>T (hg19) ; chr9:g.34648399G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648399G>T , CM000671.2:g.34648399G>T	GRCh38
NC_000009.11:g.34648396G>T , CM000671.1:g.34648396G>T	GRCh37
NC_000009.10:g.34638396G>T	NCBI36
NG_009029.1:g.6762G>T
NG_028966.1:g.1215G>T
NG_009029.2:g.6811G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*218G>T	ENSP00000509954.1:n.*218G>T
ENST00000378842.8:c.630G>T MANE Select	ENSP00000368119.4:p.Lys210Asn
ENST00000378842.7:c.630G>T	ENSP00000368119.3:p.Lys210Asn
ENST00000450095.6:c.303G>T	ENSP00000401956.2:p.Lys101Asn
ENST00000472111.5:n.886G>T
ENST00000473506.6:c.*218G>T	ENSP00000432839.2:n.*218G>T
ENST00000473529.5:n.789G>T
ENST00000487381.5:n.1015G>T
ENST00000489643.6:n.405G>T
ENST00000554085.5:c.*374G>T	ENSP00000450419.1:n.*374G>T
ENST00000554550.5:c.*250G>T	ENSP00000451435.1:n.*250G>T
ENST00000554638.5:n.1102G>T
ENST00000555020.5:n.786G>T
ENST00000555086.5:n.634G>T
ENST00000555214.5:n.451G>T
ENST00000556244.1:c.617G>T
ENST00000556278.1:c.375G>T	ENSP00000451792.1:p.Lys125Asn
ENST00000556494.5:n.751G>T
ENST00000557706.5:n.1192G>T
NM_000155.3:c.630G>T	NP_000146.2:p.Lys210Asn
NM_001258332.1:c.303G>T	NP_001245261.1:p.Lys101Asn
NM_000155.4:c.630G>T MANE Select	NP_000146.2:p.Lys210Asn
NM_001258332.2:c.303G>T	NP_001245261.1:p.Lys101Asn