Canonical Allele Identifier: CA373279069

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34647492A>C (hg19) ; chr9:g.34647495A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647495A>C , CM000671.2:g.34647495A>C	GRCh38
NC_000009.11:g.34647492A>C , CM000671.1:g.34647492A>C	GRCh37
NC_000009.10:g.34637492A>C	NCBI36
NG_009029.1:g.5858A>C
NG_028966.1:g.311A>C
NG_009029.2:g.5907A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.256A>C	ENSP00000509954.1:p.Asn86His
ENST00000378842.8:c.256A>C MANE Select	ENSP00000368119.4:p.Asn86His
ENST00000378842.7:c.256A>C	ENSP00000368119.3:p.Asn86His
ENST00000450095.6:c.50+237A>C	ENSP00000401956.2:n.50+237A>C
ENST00000465543.6:n.595A>C
ENST00000468099.2:n.529A>C
ENST00000472111.5:n.297A>C
ENST00000473506.6:c.253-46A>C	ENSP00000432839.2:n.253-46A>C
ENST00000473529.5:n.303A>C
ENST00000485531.1:n.482A>C
ENST00000487381.5:n.515A>C
ENST00000489643.6:n.282+237A>C
ENST00000554085.5:c.273A>C	ENSP00000450419.1:p.Ter91Cys
ENST00000554139.5:n.309A>C
ENST00000554330.5:n.250-46A>C
ENST00000554550.5:c.252+237A>C	ENSP00000451435.1:n.252+237A>C
ENST00000554638.5:n.513A>C
ENST00000554897.5:c.252+237A>C	ENSP00000450942.1:n.252+237A>C
ENST00000554944.5:n.283-46A>C
ENST00000555020.5:n.286A>C
ENST00000555086.5:n.260A>C
ENST00000555214.5:n.261+237A>C
ENST00000556157.1:n.380A>C
ENST00000556244.1:c.243A>C
ENST00000556278.1:c.252+237A>C	ENSP00000451792.1:n.252+237A>C
ENST00000556403.5:n.269A>C
ENST00000556494.5:n.288A>C
ENST00000557541.5:n.446-46A>C
ENST00000557706.5:n.603A>C
NM_000155.3:c.256A>C	NP_000146.2:p.Asn86His
NM_001258332.1:c.50+237A>C	NP_001245261.1:n.50+237A>C
NM_000155.4:c.256A>C MANE Select	NP_000146.2:p.Asn86His
NM_001258332.2:c.50+237A>C	NP_001245261.1:n.50+237A>C