Canonical Allele Identifier: CA373279966

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34647534C>T (hg19) ; chr9:g.34647537C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647537C>T , CM000671.2:g.34647537C>T	GRCh38
NC_000009.11:g.34647534C>T , CM000671.1:g.34647534C>T	GRCh37
NC_000009.10:g.34637534C>T	NCBI36
NG_009029.1:g.5900C>T
NG_028966.1:g.353C>T
NG_009029.2:g.5949C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.298C>T	ENSP00000509954.1:p.Pro100Ser
ENST00000378842.8:c.298C>T MANE Select	ENSP00000368119.4:p.Pro100Ser
ENST00000378842.7:c.298C>T	ENSP00000368119.3:p.Pro100Ser
ENST00000450095.6:c.50+279C>T	ENSP00000401956.2:n.50+279C>T
ENST00000465543.6:n.637C>T
ENST00000472111.5:n.339C>T
ENST00000473506.6:c.253-4C>T	ENSP00000432839.2:n.253-4C>T
ENST00000473529.5:n.345C>T
ENST00000485531.1:n.524C>T
ENST00000487381.5:n.557C>T
ENST00000489643.6:n.282+279C>T
ENST00000554085.5:c.*42C>T	ENSP00000450419.1:n.*42C>T
ENST00000554139.5:n.351C>T
ENST00000554330.5:n.250-4C>T
ENST00000554550.5:c.252+279C>T	ENSP00000451435.1:n.252+279C>T
ENST00000554638.5:n.555C>T
ENST00000554897.5:c.252+279C>T	ENSP00000450942.1:n.252+279C>T
ENST00000554944.5:n.283-4C>T
ENST00000555020.5:n.328C>T
ENST00000555086.5:n.302C>T
ENST00000555214.5:n.261+279C>T
ENST00000556157.1:n.422C>T
ENST00000556244.1:c.285C>T
ENST00000556278.1:c.252+279C>T	ENSP00000451792.1:n.252+279C>T
ENST00000556403.5:n.311C>T
ENST00000556494.5:n.330C>T
ENST00000557541.5:n.446-4C>T
ENST00000557706.5:n.645C>T
NM_000155.3:c.298C>T	NP_000146.2:p.Pro100Ser
NM_001258332.1:c.50+279C>T	NP_001245261.1:n.50+279C>T
NM_000155.4:c.298C>T MANE Select	NP_000146.2:p.Pro100Ser
NM_001258332.2:c.50+279C>T	NP_001245261.1:n.50+279C>T