Canonical Allele Identifier: CA373278761
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647221A>G , CM000671.2:g.34647221A>G GRCh38
NC_000009.11:g.34647218A>G , CM000671.1:g.34647218A>G GRCh37
NC_000009.10:g.34637218A>G NCBI36
NG_009029.1:g.5584A>G
NG_028966.1:g.37A>G
NG_009029.2:g.5633A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.215A>G ENSP00000509954.1:p.Asn72Ser
ENST00000378842.8:c.215A>G MANE Select ENSP00000368119.4:p.Asn72Ser
ENST00000378842.7:c.215A>G ENSP00000368119.3:p.Asn72Ser
ENST00000450095.6:c.13A>G ENSP00000401956.2:p.Thr5Ala
ENST00000465543.6:n.554A>G
ENST00000468099.2:n.255A>G
ENST00000472111.5:n.256A>G
ENST00000473506.6:c.215A>G ENSP00000432839.2:p.Asn72Ser
ENST00000473529.5:n.262A>G
ENST00000485531.1:n.208A>G
ENST00000487381.5:n.241A>G
ENST00000489643.6:n.245A>G
ENST00000554085.5:c.215A>G ENSP00000450419.1:p.Asn72Ser
ENST00000554139.5:n.268A>G
ENST00000554330.5:n.212A>G
ENST00000554550.5:c.215A>G ENSP00000451435.1:p.Asn72Ser
ENST00000554638.5:n.239A>G
ENST00000554897.5:c.215A>G ENSP00000450942.1:p.Asn72Ser
ENST00000554944.5:n.245A>G
ENST00000555020.5:n.245A>G
ENST00000555086.5:n.219A>G
ENST00000555214.5:n.224A>G
ENST00000556157.1:n.322A>G
ENST00000556244.1:c.99A>G
ENST00000556278.1:c.215A>G ENSP00000451792.1:p.Asn72Ser
ENST00000556403.5:n.228A>G
ENST00000556494.5:n.247A>G
ENST00000557541.5:n.408A>G
ENST00000557706.5:n.329A>G
NM_000155.3:c.215A>G NP_000146.2:p.Asn72Ser
NM_001258332.1:c.13A>G NP_001245261.1:p.Thr5Ala
NM_000155.4:c.215A>G MANE Select NP_000146.2:p.Asn72Ser
NM_001258332.2:c.13A>G NP_001245261.1:p.Thr5Ala