Canonical Allele Identifier: CA543044

Gene: MMEL1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2629443G>A , CM000663.2:g.2629443G>A	GRCh38
NC_000001.10:g.2560882G>A , CM000663.1:g.2560882G>A	GRCh37
NC_000001.9:g.2550742G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378412.8:c.42C>T MANE Select	ENSP00000367668.3:p.Ala14=
ENST00000378412.7:c.42C>T	ENSP00000367668.3:p.Ala14=
ENST00000502556.5:c.42C>T	ENSP00000422492.1:p.Ala14=
ENST00000504800.5:c.42C>T	ENSP00000425477.1:p.Ala14=
NM_033467.3:c.42C>T	NP_258428.2:p.Ala14=
XM_011542115.1:c.42C>T	XP_011540417.1:p.Ala14=
XM_011542116.1:c.42C>T	XP_011540418.1:p.Ala14=
XM_011542117.1:c.42C>T	XP_011540419.1:p.Ala14=
XM_011542118.1:c.42C>T	XP_011540420.1:p.Ala14=
XM_011542119.1:c.42C>T	XP_011540421.1:p.Ala14=
XM_011542120.1:c.-278+3423C>T	XP_011540422.1:n.-278+3423C>T
XM_011542123.1:c.42C>T	XP_011540425.1:p.Ala14=
XM_011542124.1:c.42C>T	XP_011540426.1:p.Ala14=
XM_011542125.1:c.42C>T	XP_011540427.1:p.Ala14=
XR_946752.1:n.256C>T
XR_946753.1:n.256C>T
XR_946754.1:n.256C>T
XM_017002310.1:c.42C>T	XP_016857799.1:p.Ala14=
XM_017002311.1:c.42C>T	XP_016857800.1:p.Ala14=
XM_017002312.1:c.42C>T	XP_016857801.1:p.Ala14=
XM_017002313.1:c.42C>T	XP_016857802.1:p.Ala14=
XM_017002314.1:c.42C>T	XP_016857803.1:p.Ala14=
XM_017002315.1:c.-278+3423C>T	XP_016857804.1:n.-278+3423C>T
XR_001737402.1:n.256C>T
NM_033467.4:c.42C>T MANE Select	NP_258428.2:p.Ala14=