Canonical Allele Identifier: CA355824847

Gene: TMEM44

Linked Data

• dbSNP Id: rs1714525678
• gnomAD v3: 3-194604343-C-A
• gnomAD v4: 3-194604343-C-A
• MyVariant Identifiers: chr3:g.194325072C>A (hg19) ; chr3:g.194604343C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.194604343C>A , CM000665.2:g.194604343C>A	GRCh38
NC_000003.11:g.194325072C>A , CM000665.1:g.194325072C>A	GRCh37
NC_000003.10:g.195806361C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347147.9:c.1120G>T MANE Select	ENSP00000333355.6:p.Ala374Ser
ENST00000347147.8:c.1120G>T	ENSP00000333355.6:p.Ala374Ser
ENST00000381975.7:c.1116G>T	ENSP00000371402.3:p.Gly372=
ENST00000392432.6:c.1261G>T	ENSP00000376227.2:p.Ala421Ser
ENST00000419280.5:c.*416G>T	ENSP00000414077.1:n.*416G>T
ENST00000429560.1:c.312G>T	ENSP00000403053.1:p.Gly104=
ENST00000432352.5:c.394G>T	ENSP00000409963.1:p.Ala132Ser
ENST00000452358.5:c.619G>T	ENSP00000414333.1:p.Ala207Ser
ENST00000467284.1:n.166G>T
ENST00000473092.5:c.1120G>T	ENSP00000418674.1:p.Ala374Ser
ENST00000477651.5:n.884G>T
NM_001011655.2:c.1120G>T	NP_001011655.1:p.Ala374Ser
NM_001166305.1:c.1261G>T	NP_001159777.1:p.Ala421Ser
NM_001166306.1:c.1116G>T	NP_001159778.1:p.Gly372=
NM_138399.4:c.1120G>T	NP_612408.3:p.Ala374Ser
XM_005269371.3:c.1120G>T	XP_005269428.1:p.Ala374Ser
XM_011513318.1:c.1270G>T	XP_011511620.1:p.Ala424Ser
XM_011513319.1:c.1207G>T	XP_011511621.1:p.Ala403Ser
XM_011513320.1:c.1318G>T	XP_011511622.1:p.Ala440Ser
XM_011513321.1:c.1186G>T	XP_011511623.1:p.Ala396Ser
XM_011513322.1:c.1177G>T	XP_011511624.1:p.Ala393Ser
XM_011513323.1:c.1015G>T	XP_011511625.1:p.Ala339Ser
XM_005269371.4:c.1120G>T	XP_005269428.1:p.Ala374Ser
XM_011513318.2:c.1270G>T	XP_011511620.1:p.Ala424Ser
XM_011513319.2:c.1207G>T	XP_011511621.1:p.Ala403Ser
XM_011513320.2:c.1318G>T	XP_011511622.1:p.Ala440Ser
XM_011513321.2:c.1186G>T	XP_011511623.1:p.Ala396Ser
XM_011513322.2:c.1177G>T	XP_011511624.1:p.Ala393Ser
XM_017007517.1:c.1129G>T	XP_016863006.1:p.Ala377Ser
XM_017007518.1:c.1129G>T	XP_016863007.1:p.Ala377Ser
NM_001011655.3:c.1120G>T MANE Select	NP_001011655.1:p.Ala374Ser
NM_001166305.2:c.1261G>T	NP_001159777.1:p.Ala421Ser
NM_001166306.2:c.1116G>T	NP_001159778.1:p.Gly372=
NM_138399.5:c.1120G>T	NP_612408.3:p.Ala374Ser