Canonical Allele Identifier: CA107720540

Gene: MMAA

Linked Data

• dbSNP Id: rs993358804
• gnomAD v2: 4-146560790-T-C
• gnomAD v3: 4-145639638-T-C
• gnomAD v4: 4-145639638-T-C
• MyVariant Identifiers: chr4:g.146560790T>C (hg19) ; chr4:g.145639638T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.145639638T>C , CM000666.2:g.145639638T>C	GRCh38
NC_000004.11:g.146560790T>C , CM000666.1:g.146560790T>C	GRCh37
NC_000004.10:g.146780240T>C	NCBI36
NG_007536.1:g.25341T>C
NG_007536.2:g.45597T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541599.5:c.439+60T>C	ENSP00000442284.3:n.439+60T>C
ENST00000647947.1:c.499T>C	ENSP00000496781.1:p.Phe167Leu
ENST00000648388.1:c.439+60T>C	ENSP00000497046.1:n.439+60T>C
ENST00000649156.2:c.439+60T>C MANE Select	ENSP00000497008.1:n.439+60T>C
ENST00000649173.1:c.439+60T>C	ENSP00000497871.1:n.439+60T>C
ENST00000649704.1:c.439+60T>C	ENSP00000497680.1:n.439+60T>C
ENST00000679563.1:c.439+60T>C	ENSP00000506503.1:n.439+60T>C
ENST00000679930.1:c.435+64T>C	ENSP00000506293.1:n.435+64T>C
ENST00000281317.9:c.439+60T>C	ENSP00000281317.5:n.439+60T>C
ENST00000506919.1:n.927+60T>C
ENST00000511969.4:c.439+60T>C	ENSP00000427422.1:n.439+60T>C
ENST00000541599.4:c.439+60T>C	ENSP00000442284.2:n.439+60T>C
NM_172250.2:c.439+60T>C	NP_758454.1:n.439+60T>C
XM_011531684.1:c.439+60T>C	XP_011529986.1:n.439+60T>C
XM_011531685.1:c.439+60T>C	XP_011529987.1:n.439+60T>C
XM_011531686.1:c.-285T>C	XP_011529988.1:n.-285T>C
NM_172250.3:c.439+60T>C MANE Select	NP_758454.1:n.439+60T>C
XM_011531684.3:c.439+60T>C	XP_011529986.1:n.439+60T>C
XM_011531685.2:c.439+60T>C	XP_011529987.1:n.439+60T>C
XM_011531686.2:c.-285T>C	XP_011529988.1:n.-285T>C
NM_001375644.1:c.439+60T>C	NP_001362573.1:n.439+60T>C