Canonical Allele Identifier: CA373280279

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34647660G>T (hg19) ; chr9:g.34647663G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647663G>T , CM000671.2:g.34647663G>T	GRCh38
NC_000009.11:g.34647660G>T , CM000671.1:g.34647660G>T	GRCh37
NC_000009.10:g.34637660G>T	NCBI36
NG_009029.1:g.6026G>T
NG_028966.1:g.479G>T
NG_009029.2:g.6075G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.328+96G>T	ENSP00000509954.1:n.328+96G>T
ENST00000378842.8:c.335G>T MANE Select	ENSP00000368119.4:p.Ser112Ile
ENST00000378842.7:c.335G>T	ENSP00000368119.3:p.Ser112Ile
ENST00000450095.6:c.51-169G>T	ENSP00000401956.2:n.51-169G>T
ENST00000465543.6:n.674G>T
ENST00000472111.5:n.465G>T
ENST00000473506.6:c.286G>T	ENSP00000432839.2:p.Val96Leu
ENST00000473529.5:n.471G>T
ENST00000485531.1:n.650G>T
ENST00000487381.5:n.594G>T
ENST00000489643.6:n.282+405G>T
ENST00000554085.5:c.*79G>T	ENSP00000450419.1:n.*79G>T
ENST00000554139.5:n.388G>T
ENST00000554330.5:n.372G>T
ENST00000554550.5:c.253-169G>T	ENSP00000451435.1:n.253-169G>T
ENST00000554638.5:n.681G>T
ENST00000554897.5:c.253-169G>T	ENSP00000450942.1:n.253-169G>T
ENST00000554944.5:n.405G>T
ENST00000555020.5:n.365G>T
ENST00000555086.5:n.339G>T
ENST00000555214.5:n.262-385G>T
ENST00000556157.1:n.459G>T
ENST00000556244.1:c.322G>T
ENST00000556278.1:c.252+405G>T	ENSP00000451792.1:n.252+405G>T
ENST00000556403.5:n.437G>T
ENST00000556494.5:n.456G>T
ENST00000557541.5:n.479G>T
ENST00000557706.5:n.771G>T
NM_000155.3:c.335G>T	NP_000146.2:p.Ser112Ile
NM_001258332.1:c.51-169G>T	NP_001245261.1:n.51-169G>T
NM_000155.4:c.335G>T MANE Select	NP_000146.2:p.Ser112Ile
NM_001258332.2:c.51-169G>T	NP_001245261.1:n.51-169G>T