Canonical Allele Identifier: CA373279045

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34647488G>C (hg19) ; chr9:g.34647491G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647491G>C , CM000671.2:g.34647491G>C	GRCh38
NC_000009.11:g.34647488G>C , CM000671.1:g.34647488G>C	GRCh37
NC_000009.10:g.34637488G>C	NCBI36
NG_009029.1:g.5854G>C
NG_028966.1:g.307G>C
NG_009029.2:g.5903G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.253-1G>C	ENSP00000509954.1:n.253-1G>C
ENST00000378842.8:c.253-1G>C MANE Select	ENSP00000368119.4:n.253-1G>C
ENST00000378842.7:c.253-1G>C	ENSP00000368119.3:n.253-1G>C
ENST00000450095.6:c.50+233G>C	ENSP00000401956.2:n.50+233G>C
ENST00000465543.6:n.592-1G>C
ENST00000468099.2:n.525G>C
ENST00000472111.5:n.294-1G>C
ENST00000473506.6:c.253-50G>C	ENSP00000432839.2:n.253-50G>C
ENST00000473529.5:n.300-1G>C
ENST00000485531.1:n.478G>C
ENST00000487381.5:n.511G>C
ENST00000489643.6:n.282+233G>C
ENST00000554085.5:c.269G>C	ENSP00000450419.1:p.Arg90Thr
ENST00000554139.5:n.306-1G>C
ENST00000554330.5:n.250-50G>C
ENST00000554550.5:c.252+233G>C	ENSP00000451435.1:n.252+233G>C
ENST00000554638.5:n.509G>C
ENST00000554897.5:c.252+233G>C	ENSP00000450942.1:n.252+233G>C
ENST00000554944.5:n.283-50G>C
ENST00000555020.5:n.283-1G>C
ENST00000555086.5:n.257-1G>C
ENST00000555214.5:n.261+233G>C
ENST00000556157.1:n.376G>C
ENST00000556244.1:c.239G>C
ENST00000556278.1:c.252+233G>C	ENSP00000451792.1:n.252+233G>C
ENST00000556403.5:n.266-1G>C
ENST00000556494.5:n.285-1G>C
ENST00000557541.5:n.446-50G>C
ENST00000557706.5:n.599G>C
NM_000155.3:c.253-1G>C	NP_000146.2:n.253-1G>C
NM_001258332.1:c.50+233G>C	NP_001245261.1:n.50+233G>C
NM_000155.4:c.253-1G>C MANE Select	NP_000146.2:n.253-1G>C
NM_001258332.2:c.50+233G>C	NP_001245261.1:n.50+233G>C