Canonical Allele Identifier: CA4520348

Gene: MGAM

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142008635T>C , CM000669.2:g.142008635T>C	GRCh38
NC_000007.13:g.141708435T>C , CM000669.1:g.141708435T>C	GRCh37
NC_000007.12:g.141354904T>C	NCBI36
NG_033954.1:g.17757T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001365693.1:c.257T>C MANE Select	NP_001352622.1:p.Val86Ala
ENST00000475668.6:c.257T>C MANE Select	ENSP00000417515.2:p.Val86Ala
NM_004668.2:c.257T>C	NP_004659.2:p.Val86Ala
NM_004668.3:c.257T>C	NP_004659.2:p.Val86Ala
ENST00000465654.5:c.257T>C	ENSP00000419372.1:p.Val86Ala
ENST00000497673.5:c.257T>C	ENSP00000417103.1:p.Val86Ala
ENST00000549489.6:c.257T>C	ENSP00000447378.2:p.Val86Ala
ENST00000620571.1:c.257T>C	ENSP00000482292.1:p.Val86Ala
XM_006716168.2:c.257T>C	XP_006716231.1:p.Val86Ala
XM_011516670.1:c.257T>C	XP_011514972.1:p.Val86Ala
XM_011516670.2:c.257T>C	XP_011514972.1:p.Val86Ala
XM_011516671.1:c.257T>C	XP_011514973.1:p.Val86Ala
XM_011516671.2:c.257T>C	XP_011514973.1:p.Val86Ala
XM_011516672.1:c.257T>C	XP_011514974.1:p.Val86Ala
XM_011516672.2:c.257T>C	XP_011514974.1:p.Val86Ala
XM_011516673.1:c.257T>C	XP_011514975.1:p.Val86Ala
XM_011516673.2:c.257T>C	XP_011514975.1:p.Val86Ala
XM_011516674.1:c.257T>C	XP_011514976.1:p.Val86Ala
XM_011516674.2:c.257T>C	XP_011514976.1:p.Val86Ala
XM_017012772.1:c.257T>C	XP_016868261.1:p.Val86Ala
XM_024446990.1:c.257T>C	XP_024302758.1:p.Val86Ala
XR_927545.1:n.369T>C