Canonical Allele Identifier: CA10617105

Gene: MMAA

Linked Data

• ClinVar Variation Id: 347599
• ClinVar RCV Id: RCV000276358
• dbSNP Id: rs560188002
• MyVariant Identifiers: chr4:g.146560674T>C (hg19) ; chr4:g.145639522T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.145639522T>C , CM000666.2:g.145639522T>C	GRCh38
NC_000004.11:g.146560674T>C , CM000666.1:g.146560674T>C	GRCh37
NC_000004.10:g.146780124T>C	NCBI36
NG_007536.1:g.25225T>C
NG_007536.2:g.45481T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541599.5:c.383T>C	ENSP00000442284.3:p.Leu128Pro
ENST00000647947.1:c.383T>C	ENSP00000496781.1:p.Leu128Pro
ENST00000648388.1:c.383T>C	ENSP00000497046.1:p.Leu128Pro
ENST00000649156.2:c.383T>C MANE Select	ENSP00000497008.1:p.Leu128Pro
ENST00000649173.1:c.383T>C	ENSP00000497871.1:p.Leu128Pro
ENST00000649704.1:c.383T>C	ENSP00000497680.1:p.Leu128Pro
ENST00000679563.1:c.383T>C	ENSP00000506503.1:p.Leu128Pro
ENST00000679930.1:c.383T>C	ENSP00000506293.1:p.Leu128Pro
ENST00000281317.9:c.383T>C	ENSP00000281317.5:p.Leu128Pro
ENST00000506919.1:n.871T>C
ENST00000511969.4:c.383T>C	ENSP00000427422.1:p.Leu128Pro
ENST00000541599.4:c.383T>C	ENSP00000442284.2:p.Leu128Pro
NM_172250.2:c.383T>C	NP_758454.1:p.Leu128Pro
XM_011531684.1:c.383T>C	XP_011529986.1:p.Leu128Pro
XM_011531685.1:c.383T>C	XP_011529987.1:p.Leu128Pro
NM_172250.3:c.383T>C MANE Select	NP_758454.1:p.Leu128Pro
XM_011531684.3:c.383T>C	XP_011529986.1:p.Leu128Pro
XM_011531685.2:c.383T>C	XP_011529987.1:p.Leu128Pro
XM_011531686.2:c.-401T>C	XP_011529988.1:n.-401T>C
NM_001375644.1:c.383T>C	NP_001362573.1:p.Leu128Pro