Canonical Allele Identifier: CA192669373
Gene: GALT HGNC NCBI

Linked Data

dbSNP Id: rs781016489

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647382C>A , CM000671.2:g.34647382C>A GRCh38
NC_000009.11:g.34647379C>A , CM000671.1:g.34647379C>A GRCh37
NC_000009.10:g.34637379C>A NCBI36
NG_009029.1:g.5745C>A
NG_028966.1:g.198C>A
NG_009029.2:g.5794C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.253-110C>A ENSP00000509954.1:n.253-110C>A
ENST00000378842.8:c.253-110C>A MANE Select ENSP00000368119.4:n.253-110C>A
ENST00000378842.7:c.253-110C>A ENSP00000368119.3:n.253-110C>A
ENST00000450095.6:c.50+124C>A ENSP00000401956.2:n.50+124C>A
ENST00000465543.6:n.592-110C>A
ENST00000468099.2:n.416C>A
ENST00000472111.5:n.294-110C>A
ENST00000473506.6:c.252+124C>A ENSP00000432839.2:n.252+124C>A
ENST00000473529.5:n.300-110C>A
ENST00000485531.1:n.369C>A
ENST00000487381.5:n.402C>A
ENST00000489643.6:n.282+124C>A
ENST00000554085.5:c.253-93C>A ENSP00000450419.1:n.253-93C>A
ENST00000554139.5:n.306-110C>A
ENST00000554330.5:n.249+124C>A
ENST00000554550.5:c.252+124C>A ENSP00000451435.1:n.252+124C>A
ENST00000554638.5:n.400C>A
ENST00000554897.5:c.252+124C>A ENSP00000450942.1:n.252+124C>A
ENST00000554944.5:n.282+124C>A
ENST00000555020.5:n.283-110C>A
ENST00000555086.5:n.257-110C>A
ENST00000555214.5:n.261+124C>A
ENST00000556157.1:n.360-93C>A
ENST00000556244.1:c.137-7C>A
ENST00000556278.1:c.252+124C>A ENSP00000451792.1:n.252+124C>A
ENST00000556403.5:n.266-110C>A
ENST00000556494.5:n.285-110C>A
ENST00000557541.5:n.445+124C>A
ENST00000557706.5:n.490C>A
NM_000155.3:c.253-110C>A NP_000146.2:n.253-110C>A
NM_001258332.1:c.50+124C>A NP_001245261.1:n.50+124C>A
NM_000155.4:c.253-110C>A MANE Select NP_000146.2:n.253-110C>A
NM_001258332.2:c.50+124C>A NP_001245261.1:n.50+124C>A