Canonical Allele Identifier: CA373278735

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34647208G>C (hg19) ; chr9:g.34647211G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647211G>C , CM000671.2:g.34647211G>C	GRCh38
NC_000009.11:g.34647208G>C , CM000671.1:g.34647208G>C	GRCh37
NC_000009.10:g.34637208G>C	NCBI36
NG_009029.1:g.5574G>C
NG_028966.1:g.27G>C
NG_009029.2:g.5623G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.205G>C	ENSP00000509954.1:p.Asp69His
ENST00000378842.8:c.205G>C MANE Select	ENSP00000368119.4:p.Asp69His
ENST00000378842.7:c.205G>C	ENSP00000368119.3:p.Asp69His
ENST00000450095.6:c.3G>C	ENSP00000401956.2:p.Met1Ile
ENST00000465543.6:n.544G>C
ENST00000468099.2:n.245G>C
ENST00000472111.5:n.246G>C
ENST00000473506.6:c.205G>C	ENSP00000432839.2:p.Asp69His
ENST00000473529.5:n.252G>C
ENST00000485531.1:n.198G>C
ENST00000487381.5:n.231G>C
ENST00000489643.6:n.235G>C
ENST00000554085.5:c.205G>C	ENSP00000450419.1:p.Asp69His
ENST00000554139.5:n.258G>C
ENST00000554330.5:n.202G>C
ENST00000554550.5:c.205G>C	ENSP00000451435.1:p.Asp69His
ENST00000554638.5:n.229G>C
ENST00000554897.5:c.205G>C	ENSP00000450942.1:p.Asp69His
ENST00000554944.5:n.235G>C
ENST00000555020.5:n.235G>C
ENST00000555086.5:n.209G>C
ENST00000555214.5:n.214G>C
ENST00000556157.1:n.312G>C
ENST00000556244.1:c.89G>C
ENST00000556278.1:c.205G>C	ENSP00000451792.1:p.Asp69His
ENST00000556403.5:n.218G>C
ENST00000556494.5:n.237G>C
ENST00000557541.5:n.398G>C
ENST00000557706.5:n.319G>C
NM_000155.3:c.205G>C	NP_000146.2:p.Asp69His
NM_001258332.1:c.3G>C	NP_001245261.1:p.Met1Ile
NM_000155.4:c.205G>C MANE Select	NP_000146.2:p.Asp69His
NM_001258332.2:c.3G>C	NP_001245261.1:p.Met1Ile