Canonical Allele Identifier: CA373283835

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648826A>T (hg19) ; chr9:g.34648829A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648829A>T , CM000671.2:g.34648829A>T	GRCh38
NC_000009.11:g.34648826A>T , CM000671.1:g.34648826A>T	GRCh37
NC_000009.10:g.34638826A>T	NCBI36
NG_009029.1:g.7192A>T
NG_028966.1:g.1645A>T
NG_009029.2:g.7241A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*343A>T	ENSP00000509954.1:n.*343A>T
ENST00000378842.8:c.755A>T MANE Select	ENSP00000368119.4:p.Gln252Leu
ENST00000378842.7:c.755A>T	ENSP00000368119.3:p.Gln252Leu
ENST00000450095.6:c.428A>T	ENSP00000401956.2:p.Gln143Leu
ENST00000473506.6:c.*343A>T	ENSP00000432839.2:n.*343A>T
ENST00000489643.6:n.835A>T
ENST00000554085.5:c.*499A>T	ENSP00000450419.1:n.*499A>T
ENST00000554550.5:c.*375A>T	ENSP00000451435.1:n.*375A>T
ENST00000554638.5:n.1227A>T
ENST00000555020.5:n.1216A>T
ENST00000555086.5:n.759A>T
ENST00000555754.1:n.100A>T
ENST00000556244.1:c.742A>T
ENST00000556278.1:c.432+373A>T	ENSP00000451792.1:n.432+373A>T
ENST00000557706.5:n.1317A>T
NM_000155.3:c.755A>T	NP_000146.2:p.Gln252Leu
NM_001258332.1:c.428A>T	NP_001245261.1:p.Gln143Leu
NM_000155.4:c.755A>T MANE Select	NP_000146.2:p.Gln252Leu
NM_001258332.2:c.428A>T	NP_001245261.1:p.Gln143Leu