Canonical Allele Identifier: CA373279251

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34647529A>C (hg19) ; chr9:g.34647532A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647532A>C , CM000671.2:g.34647532A>C	GRCh38
NC_000009.11:g.34647529A>C , CM000671.1:g.34647529A>C	GRCh37
NC_000009.10:g.34637529A>C	NCBI36
NG_009029.1:g.5895A>C
NG_028966.1:g.348A>C
NG_009029.2:g.5944A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.293A>C	ENSP00000509954.1:p.Asp98Ala
ENST00000378842.8:c.293A>C MANE Select	ENSP00000368119.4:p.Asp98Ala
ENST00000378842.7:c.293A>C	ENSP00000368119.3:p.Asp98Ala
ENST00000450095.6:c.50+274A>C	ENSP00000401956.2:n.50+274A>C
ENST00000465543.6:n.632A>C
ENST00000472111.5:n.334A>C
ENST00000473506.6:c.253-9A>C	ENSP00000432839.2:n.253-9A>C
ENST00000473529.5:n.340A>C
ENST00000485531.1:n.519A>C
ENST00000487381.5:n.552A>C
ENST00000489643.6:n.282+274A>C
ENST00000554085.5:c.*37A>C	ENSP00000450419.1:n.*37A>C
ENST00000554139.5:n.346A>C
ENST00000554330.5:n.250-9A>C
ENST00000554550.5:c.252+274A>C	ENSP00000451435.1:n.252+274A>C
ENST00000554638.5:n.550A>C
ENST00000554897.5:c.252+274A>C	ENSP00000450942.1:n.252+274A>C
ENST00000554944.5:n.283-9A>C
ENST00000555020.5:n.323A>C
ENST00000555086.5:n.297A>C
ENST00000555214.5:n.261+274A>C
ENST00000556157.1:n.417A>C
ENST00000556244.1:c.280A>C
ENST00000556278.1:c.252+274A>C	ENSP00000451792.1:n.252+274A>C
ENST00000556403.5:n.306A>C
ENST00000556494.5:n.325A>C
ENST00000557541.5:n.446-9A>C
ENST00000557706.5:n.640A>C
NM_000155.3:c.293A>C	NP_000146.2:p.Asp98Ala
NM_001258332.1:c.50+274A>C	NP_001245261.1:n.50+274A>C
NM_000155.4:c.293A>C MANE Select	NP_000146.2:p.Asp98Ala
NM_001258332.2:c.50+274A>C	NP_001245261.1:n.50+274A>C